• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

FUKAO Toshiyuki  深尾 敏幸

ORCIDConnect your ORCID iD *help
Researcher Number 70260578
Other IDs
External Links
Affiliation (based on the past Project Information) *help 2016 – 2018: 岐阜大学, 大学院医学系研究科, 教授
2015: 岐阜大学, 医学部, 教授
2012 – 2015: 岐阜大学, 医学(系)研究科(研究院), 教授
2013: 岐阜大学, 大学院・医学系研究科, 教授
2010 – 2011: 岐阜大学, 医学系研究科, 教授 … More
2009: Gifu University, 大学院・医学系研究科, 教授
2007: Gifu University, Graduate School of Medicine, Professor
2007: Gifu University, Graduate School of Medicine, Professor
2006: 岐阜大学, 大学院医学系研究科, 助教授
2004 – 2006: Gifu University, graduate school medicine postgraduate course, Associate professor, 大学院・医学研究科, 助教授
2005: Gifu University, Graduate School of Medicine Department of Pediatrics, Associate professor, 大学院・医学系研究科, 助教授
2001 – 2003: GIFU UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRICS, ASSOCIATE PROFESSOR, 医学部附属病院, 講師
2001: Gifu university Hospital, Assistant professor, 医学部・附属病院, 講師
1996 – 2000: 岐阜大学, 医学部・附属病院, 助手
1998: 岐阜大学, 医学部附属病院, 助手
1994 – 1996: Gifu University, Dept.of Pediatrics, Research Associate, 医学部, 助手
1995: 岐阜大学, 医学部附属病院, 助手
1994: Gifu University School of Medicine Reseach Associate, 医学部・付属病院, 助手
1994: 岐阜大学, 医学部・附属病院, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Pediatrics / Biological Sciences
Except Principal Investigator
Pediatrics / Pediatrics / Integrated Nutrition Science
Keywords
Principal Investigator
遺伝子変異 / ケトン体 / CoA transferase / β-ケトチオラーゼ欠損症 / スプライシング / ケトン体代謝 / チオラーゼ / 先天代謝異常症 / nonsense-mediated RNA decay / Alu配列 … More / サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症 / ケトアシドーシス / 先天代謝異常 / 先天性代謝異常症 / CoAトランスフェラーゼ / 遺伝子解析 / ketone body metabolism / thiolase / 3次構造 / inborn errors of metabolism / ノックアウトマウス / チオラーゼ欠損症 / ketone body / 遺伝子内欠失 / 遺伝子発現 / 脂肪酸β酸化 / サクシニル-CoA:3ケト酸CoAトランスフェラーゼ / cDNAクローニング / 出生前診断 / 発現実験 / 遺伝学 / 遺伝子 / tertiary structural model / transcription / splicing / Inborn errors of metabolism / CoAトランスフェラーゼ欠損症 / OXCT / ACAT1 / 蛋白3次構造 / 転写 / tertiary structure / "Mild" mutation / Alu sequence / methylation / 3-ハイドロキシ酪酸脱水素酵素 / SCOT / T2 / "mild" mutation / メチレーション / mutation / ketoacidosis / Thiolase deficiency / ミトコンドリア / 極長鎖アシル-CoA脱水素酵素欠損症 / 有機酸 / 変異 / gene regulation / gene mutation / gene cloning / succinyl-CoA : 3-ketoacid CoA transferase / mitochondrial acetoacetyl-CoA thiolase / beta-ketothiolase deficiency / ミトコンドリア.アセトアセチル-CoAテオラーゼ / サクシニル-CoA:3ケト酸CoAトランスフェラーゼ欠損症 / T2欠損症 / ミトコンドリア・アセトアセチル-CoAチオラーゼ / 発現調節 / 遺伝子クローニング / サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ / ミトコンドリア・アセトアセチル-CoAチオラゼ / Alu element / 遺伝子再構成 / エクソン認識 / 非コードDNA / ChiPアッセイ / OXCT1 / 遺伝子発現調節 / 遺伝子異常 / 遺伝病 / エクソンスキップ / 相同組換え / 遺伝子内重複 / ケートアシドーシス / ケトン / 人類遺伝 / 遺伝・先天異常学 / アシル-CoA脱水素酵素 / Coenzyme Aトランスフェラーゼ / 極長鎖アシル-CoA脱水素酵素 / アシル-CoAデヒドロゲナーゼ / 細胞質アセトアセチル-CoAチオラーゼ / イムノブロット / β-ケトチオラーゼ … More
Except Principal Investigator
BLM / ATM / Ataxia-telangiectasia / Bloom症候群 / MS / 遺伝子解析 / 有機酸代謝異常症 / BAFF / APRIL / CVI / IgA subclass / IgA deficiency / alpha germline transcript / TACI / IgAサブクラス / CVID / IgA欠損症 / activation induced cytidine deaminase / dominant negative / SUMO-1 / telomerase / 免疫不全 / 高発癌 / 酵素診断 / GC / 有機酸代謝異常 / β-ケトチオラーゼ欠損症 / 先天代謝異常症 / 脂肪酸代謝異常 / 脂肪酸代謝異常症 / 臓器特異性 / 脂肪酸β酸化系 / 栄養科学 / TNFR family / TNF family / lgAサブクラス / lgA損症 / TNFRファミリー / TNFファミリー / China. Vietnam. India / International cooperation / gene analysis / enzymatic diaanosis / fast -GC / mass spectrometry / fatty acid disorder / Organic acidemia / 中国:ベトナム:インド:フランス / 病態評価 / 病因解析 / マススクリーニング / 中国:ベトナム:インド / 国際情報交換 / Fast-GC / 質量分析 / primary immunodeficiency / AID / Hyper IgM免疫不全症 / common mutataion / 先天性免疫不全症 / Urinary 11-dehydro-thromboxane B_2 / Urinary leukotriene E_4 / pranlukast / leukotriene C4 synthase / Gene analysis / Arachidonic acid cascade / bronchial asthma / 尿中11DTXB2 / 尿中11DTX / 尿中LTE4 / プランルカスト / LTC4合成酵素 / アラキドン酸カスケード / 気管支喘息 / Hyper IgM type II / radiation sensitivity / double knockout / Bloom syndrome / ダブルノックアウト / dominat negative AID / hyper IgM症候群 / 会合 / Ataxia-telanigectasia / 高IgM症候群II型 / 放射線感受性 / ダブルノックアウト細胞 / phosphorylation / ATM kinase activity / スクリーニング / 細胞死 / リン酸化 / ATM Kinase活性 / Acyl-CoA oxidase / Peroxisome biogenesis disorder / ABC protein / Dicarboxylic acid / ペルオキシソーム / ABC蛋白 / アシルーCOAオキシダーゼ / アシル-CoAオキシダーゼ / ペルオキシソーム欠損症 / ABC蛋白質 / ジカルボン酸 / IMMUNODEFICIENCY / FAMILIAL TUMOR / ATAXIA-TELANGIECTASIA / BLOOM SYNDROME / 核移行シグナル / ヘリカーゼ活性 / イムノブロット / 相合作用 / cultured cells / enzyme assay / ketone body disorder / organic acidemia / ケトン体 / 培養リンパ球 / ケトン体代謝異常症 / ケトーシス / Carrier Detection / Prenatal Diagnosis / Molecular Analysis / Mitochondrial Acetoacetyl-CoA Thiolase / Bate-ketothiolase Deficiency / Organic Acid Disorder / 出生前診断 / 保因者診断 / Peroxisomal disease / beta-Ketothiolase deficiency / Mucopolysacharidoses / inherited metabolic disease / ペルオキシソーム病 / ムコ多糖症 / β酸化能 / MCAD欠損症 / 有機酸血症 / 全身性カルニチン欠乏症 / 環境温度 / 細菌毒素 / ベザフィブラート / 分子解析 / in vitro probe assay / 急性脳症 / ミトコンドリアβ酸化 Less
  • Research Projects

    (26 results)
  • Research Products

    (262 results)
  • Co-Researchers

    (25 People)
  •  Research on defects in ketone body metabolism: Establishment of defective cell lines and expression systems of mutant enzymes .Principal Investigator

    • Principal Investigator
      Fukao Toshiyuki
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  ヒトゲノムにおけるAlu配列の遺伝性疾患,遺伝的多様性に与える影響に関する研究Principal Investigator

    • Principal Investigator
      深尾 敏幸
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Gifu University
  •  The basic investigation on the organ differences of fatty acid beta-oxidation system

    • Principal Investigator
      USUDA Nobuteru
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Integrated Nutrition Science
    • Research Institution
      Fujita Health University
  •  Alu配列と遺伝性疾患の病態に関する研究Principal Investigator

    • Principal Investigator
      深尾 敏幸
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Gifu University
  •  Study on ketone body metabolism and its defects: mainly gene expression mechanism of SCOT genePrincipal Investigator

    • Principal Investigator
      FUKAO Toshiyuki
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Study on relation between acute encephalopathy in childhood and causative disorders of organic and fatty acid metabolism

    • Principal Investigator
      YAMAGUCHI Seiji
    • Project Period (FY)
      2010 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Shimane University
  •  Molecular basis of disorders in ketone body metabolism and regulation of genes involving in its metabolismPrincipal Investigator

    • Principal Investigator
      FUKAO Toshiyuki
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Molecular basis of inborn errors of ketone body metabolism:mainly tertiary structural changes of protein and abnormalities of splicingPrincipal Investigator

    • Principal Investigator
      FUKAO Toshiyuki
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  The mechanism of antibody production using the model of primary immunodeficiency, especially IgA deficiency

    • Principal Investigator
      KANEKO Hideo
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Study of metabolic screening, diagnosis, evaluation of treatment, and molecular analysis for organic and fatty acid disorders

    • Principal Investigator
      YAMAGUCHI Seiji
    • Project Period (FY)
      2005 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Shimane University
  •  Molecular basis of inborn errors of ketone body metabolism : mainly basic studies for responsible genesPrincipal Investigator

    • Principal Investigator
      FUKAO Toshiyuki
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Molecular basis of primary immunodeficiency of antibody deficiency

    • Principal Investigator
      KANEKO Hideo
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      GIFU UNIVERSITY
  •  Study of the pharmacogenetic analysis of an arachidonic acid cascade in asthma and the made-to-order treatment for an asthma patient

    • Principal Investigator
      TERAMOTO Takahide
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Clinical and molecular studies on in born errors of ketone body metabolismPrincipal Investigator

    • Principal Investigator
      FUKAO Toshiyuki
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      GIFU UNIVERSITY
  •  THE MOLECULAR ANALYSIS OF THE PRIMARY IMMUNODEFICIENCY ASSOCIATED WITH HIGH PREDISPOSITION TO CANCER

    • Principal Investigator
      KANEKO Hideo
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      GIFU UNIVERSITY
  •  Study on Congenital Dicarboxylic Aciduria and ABC Protein

    • Principal Investigator
      SUZUKI Yasuyuki
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  MOLECULAR ANALYSIS OF CANCER FAMILY SYNDROME

    • Principal Investigator
      KANEKO Hideo
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      GIFU UNIVERSITY
  •  Molecular basis of inborn errors of ketone body metabolism, especially succinyl-CoA : 3-ketoacid CoA transferase deficiencyPrincipal Investigator

    • Principal Investigator
      FUKAO Toshiyuki
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  MOLECULAR ANALYSIS OF CANCER FAMILY SYNDROME

    • Principal Investigator
      KANEKO Hideo
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      GIFU UNIVERSITY
  •  先天性ケトン体代謝、脂肪酸β酸化系異常症の分子病態解析Principal Investigator

    • Principal Investigator
      深尾 敏幸
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  先天性ケトン体代謝,脂肪酸β酸化系異常症の酸素診断と分子病態解析Principal Investigator

    • Principal Investigator
      深尾 敏幸
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  先天性ケトン体代謝異常症の酵素診断と分子病態解析Principal Investigator

    • Principal Investigator
      深尾 敏幸
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Study of early detection of patients with inherited metabolic disorders characterized clinically by severe ketoacidosis.

    • Principal Investigator
      YAMAGUCHI Seiji
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Shimane Medical University
  •  ミトコンドリアおよび細胞質アセトアセチル-CoAチオラーゼ欠損症の病因解析Principal Investigator

    • Principal Investigator
      深尾 敏幸
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Gifu University
  •  Molecular analysis of the inherited metabolic diseases---Mucopolysaccharidoses, Mitochondrial acetoacetyl-CoA thiolase deficiency and Peroxisomal diseases--

    • Principal Investigator
      ORII Tadao
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      GIFU UNIVEERSITY
  •  Studies on clinical and molecular heterogeneity in beta-ketothiolase deficiency.

    • Principal Investigator
      YAMAGUCHI Seiji
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Shimane Medical University

All 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation Book

  • [Book] 16章 インターメアと疾患―機能性をもつAlu配列.全体のタイトル:ゲノムを司るインターメア 非コードDNAの新たな展開2015

    • Author(s)
      深尾敏幸
    • Total Pages
      14
    • Publisher
      化学同人
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Book] タンデムマス・スクリーニングガイドブック2013

    • Author(s)
      深尾敏幸
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Book] Vii遺伝子検査の実際2)先天性代謝異常症:有波忠雄、太田敏子、清水淑子、福嶋亜紀子、三村邦裕編集メディカルサイエンス遺伝子検査学2012

    • Author(s)
      深尾敏幸
    • Publisher
      東京近代出版
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] メディカルサイエンス遺伝子検査学分担執筆Vii遺伝子検査の実際2)先天性代謝異常症(有波忠雄、太田敏子、清水淑子、福嶋亜紀子、三村邦裕編集)2011

    • Author(s)
      深尾敏幸
    • Total Pages
      7
    • Publisher
      近代出版
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] ケトン体代謝異常症:山口清次編集有機酸代謝異常ガイドブックー臨床所見とGC/MSデータ解釈のノウハウ2011

    • Author(s)
      深尾敏幸
    • Publisher
      東京,診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] β-ケトチオラーゼ欠損症:山口清次編集有機酸代謝異常ガイドブックー臨床所見とGC/MSデータ解釈のノウハウ2011

    • Author(s)
      深尾敏幸
    • Publisher
      東京,診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] 有機酸代謝異常ガイドブックー臨床所見とGC/MSデータ解釈のノウハウ分担執筆β-ケトチオラーゼ欠損症、ケトン体代謝異常症、3-ヒドロキシイソ酪酸尿症(山口清次編集)2011

    • Author(s)
      深尾敏幸
    • Total Pages
      6
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] 先天代謝異常症Diagnosis at a glance分担執筆リジン尿性蛋白不耐症、イソ吉草酸血症、CPT2欠損症(遠藤文夫,山口清次,高柳正樹,深尾敏幸,酒井規夫編集委員)2011

    • Author(s)
      深尾敏幸
    • Total Pages
      6
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] 有機酸代謝異常ガイドフッター臨床所見とGC/MSデータ解釈のノウハ分担執筆3-ヒドロキシジカルボン酸尿症、ケトン性ジカルボン酸尿症、ケトン性ジカルボン酸尿症(山口清次編集)2011

    • Author(s)
      渡辺宏雄、深尾敏幸
    • Total Pages
      6
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] ケトン体:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常2010

    • Author(s)
      深尾敏幸
    • Publisher
      東京,中山書店
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] β-ケトチオラーゼ欠損症:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常2010

    • Author(s)
      深尾敏幸
    • Publisher
      東京,中山書店
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] 小児科臨床ピクシス見逃せない先天代謝異常分担執筆ケトン体、ケトーシス、ケトン体利用異常症、β-ケトチオラーゼ欠損症2010

    • Author(s)
      深尾敏幸
    • Total Pages
      14
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] ケトン体利用異常症:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常2010

    • Author(s)
      深尾敏幸
    • Publisher
      東京,中山書店
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] ケトーシス:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常2010

    • Author(s)
      深尾敏幸
    • Publisher
      東京,中山書店
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] 急性胃腸炎を契機に急激な意識障害を起こした9ヶ月男児:遠藤文夫,山口清次,高柳正樹,深尾敏幸編集委員.症例から学ぶ先天代謝異常症.日常診療からのアプローチ2009

    • Author(s)
      浦澤林太郎,久保徹夫,深尾敏幸
    • Publisher
      東京診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Book] NOVEL DEVELOPMENTS ON GENETIC RECOMBINATION : DNA DOUBLE STRAND BREAK AND DNA END-JOINING2004

    • Author(s)
      Kaneko H, Fukao T, Kondo N
    • Publisher
      JAPAN SCIENTIFIC SOCIETIES PRESS ELSEVIER
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency2019

    • Author(s)
      Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E.
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Issue: 2 Pages: 99-111

    • DOI

      10.1038/s10038-018-0524-x

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962, KAKENHI-PROJECT-17K16245
  • [Journal Article] The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry2018

    • Author(s)
      Kiema Tiila-Riikka、Thapa Chandan J.、Laitaoja Mikko、Schmitz Werner、Maksimainen Mirko M.、Fukao Toshiyuki、Rouvinen Juha、J?nis Janne、Wierenga Rik K.
    • Journal Title

      Biochemical Journal

      Volume: 476 Issue: 2 Pages: 307-332

    • DOI

      10.1042/bcj20180788

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Journal Article] Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis2017

    • Author(s)
      Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T
    • Journal Title

      Journal of Inherited Metabolic Disease

      Volume: 40 Issue: 6 Pages: 845-852

    • DOI

      10.1007/s10545-017-0065-z

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency2017

    • Author(s)
      Abdelkreem E, Akella RR, Dave U, Sane S, Otsuka H, Sasai H, Aoyama Y, Nakama M, Ohnishi H, Mahmoud S, Abd El Aal M, Fukao T
    • Journal Title

      JIMD reports

      Volume: 印刷中 Pages: 59-65

    • DOI

      10.1007/8904_2016_26

    • ISBN
      9783662558324, 9783662558331
    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression2017

    • Author(s)
      Akagawa S, Fukao T, Akagawa Y, Sasai H, Kohdera U, Kino M, Shigematsu Y, Aoyama Y, Kaneko K
    • Journal Title

      JIMD reports

      Volume: 32 Pages: 81-85

    • DOI

      10.1007/8904_2016_570

    • ISBN
      9783662543849, 9783662543856
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature2017

    • Author(s)
      Abdelkreem E, Alobaidy H, Aoyama Y, Mahmoud S, El Aal MA, Fukao T
    • Journal Title

      The Egyptian Journal of Medical Human Genetics

      Volume: 18 Issue: 2 Pages: 100-203

    • DOI

      10.1016/j.ejmhg.2016.11.001

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] A novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene2017

    • Author(s)
      Aoyama Y, Sasai H, Abdelkreem E, Otsuka H, Nakama M, Kumar S, Aroor S,Shukla A, Fukao T
    • Journal Title

      Molecular Medicine Reports

      Volume: 印刷中 Issue: 6 Pages: 3879-3884

    • DOI

      10.3892/mmr.2017.6434

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. Molecular Genetics and Genomic Medicine2017

    • Author(s)
      Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Nakama M, Hori T, Ohnishi H, Turner L, Fukao T
    • Journal Title

      Molecular Genetics and Genomic Medicine

      Volume: 5 Issue: 2 Pages: 177-184

    • DOI

      10.1002/mgg3.275

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam2017

    • Author(s)
      Nguyen KN, Abdelkreem E, Colombo R, Hasegawa Y, Can NT, Bui TP, Le HT, Tran MT, Nguyen HT, Trinh HT, Aoyama Y, Sasai H, Yamaguchi S, Fukao T, Vu DC
    • Journal Title

      Journal of Inherited Metabolic Disease

      Volume: 40 Issue: 3 Pages: 395-401

    • DOI

      10.1007/s10545-017-0026-6

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
  • [Journal Article] Exon 10 skipping in ACAT1 caused by a novel mutation (c.949G>A) located at an exonic splice enhancer site2016

    • Author(s)
      Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T
    • Journal Title

      Molecular Medicine Reports

      Volume: 14 Pages: 4906-4910

    • Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Journal Article] Turkish patient with Succinyl-CoA:3-oxoacid CoA transferase deficiency mimicking diabetic ketoacidosis.2016

    • Author(s)
      Erdol S, Tre M, Yakut T, Saglam H, Sasai H, Abdelkreem E, Ohtsuka H, Fukao T
    • Journal Title

      Journal of Inborn Errors of Metabolism and Screening

      Volume: 4 Pages: 232640981665128-232640981665128

    • DOI

      10.1177/2326409816651281

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Journal Article] Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency2015

    • Author(s)
      Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T.
    • Journal Title

      International Journal of Molecular Medicine

      Volume: 35 Issue: 6 Pages: 1554-1560

    • DOI

      10.3892/ijmm.2015.2184

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K01693, KAKENHI-PUBLICLY-26114708
  • [Journal Article] Inborn errors of ketone body utilization2015

    • Author(s)
      Hori T, Yamaguchi S, Shintaku H, Horikawa R, Shigematsu Y, Hakayanagi M, Fukao T
    • Journal Title

      Pediatr Int

      Volume: 57 Issue: 1 Pages: 51-48

    • DOI

      10.1111/ped.12585

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505, KAKENHI-PUBLICLY-26114708, KAKENHI-PROJECT-26860793
  • [Journal Article] Application of Multiplex ligation-dependent probe amplification and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two Japanese patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.2015

    • Author(s)
      6. Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T
    • Journal Title

      Int J Mol Med

      Volume: 未定

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Journal Article] Application of Multiplex ligation-dependent probe amplification and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two Japanese patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.2015

    • Author(s)
      Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T
    • Journal Title

      Int J Mol Med

      Volume: 未定

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Journal Article] A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.2014

    • Author(s)
      Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW.
    • Journal Title

      J Inherit Metab Dis

      Volume: undefined Issue: 6 Pages: 983-987

    • DOI

      10.1007/s10545-013-9589-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Journal Article] The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.2014

    • Author(s)
      Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, ShigematsuY, Hasegawa Y.
    • Journal Title

      J Hum Genet

      Volume: 59 Issue: 11 Pages: 609-614

    • DOI

      10.1038/jhg.2014.79

    • NAID

      40020269650

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-25504016, KAKENHI-PROJECT-26860793, KAKENHI-PROJECT-26860830
  • [Journal Article] Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India.2014

    • Author(s)
      Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T.
    • Journal Title

      Brain Dev

      Volume: undefiied Issue: 6 Pages: 537-540

    • DOI

      10.1016/j.braindev.2013.07.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Journal Article] Ketone body metabolism and its defects.2014

    • Author(s)
      Fukao T, Mitchell G, Saas JO, Hori T, Orii K, Aoyama Y
    • Journal Title

      J Inherited Metab Dis

      Volume: 37 Issue: 4 Pages: 541-551

    • DOI

      10.1007/s10545-014-9704-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24591505, KAKENHI-PUBLICLY-26114708, KAKENHI-PROJECT-26860793
  • [Journal Article] Molecular basis of two exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene. Study on intermediates of OXCT1 transcripts in fibroblasts.2013

    • Author(s)
      Hori T, Fukao T, Murase K, Sakaguchi N, Harding CO, Kondo N.
    • Journal Title

      Hum Mutat

      Volume: 34 Issue: 3 Pages: 473-480

    • DOI

      10.1002/humu.22258

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505, KAKENHI-PUBLICLY-24114507
  • [Journal Article] Intracellular in vitro probe acylcarnitine assay for identifying deficiencies ofcarnitine transporter and carnitine palmitoyltransferase-12013

    • Author(s)
      Purevsuren J
    • Journal Title

      Anal Bioanal Chem

      Volume: 405 Issue: 4 Pages: 1345-1351

    • DOI

      10.1007/s00216-012-6532-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-10F00430, KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-23791176, KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-24659498, KAKENHI-PUBLICLY-24114507
  • [Journal Article] Development of MLPA for Human ACAT1 Gene and Identification of a Heterozygous Alu-mediated Deletion of Exons 2 and 3 in a Patient with Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency.2013

    • Author(s)
      Fukao T, Aoyama Y, Murase K, Hori T, Wierenga R, Boneh A, Kondo N
    • Journal Title

      Mol Genet Metab

      Volume: 110 Issue: 1-2 Pages: 184-187

    • DOI

      10.1016/j.ymgme.2013.07.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-24114507, KAKENHI-PROJECT-24591505
  • [Journal Article] A treatable new cause of chorea: beta-ketothiolase deficiency.2013

    • Author(s)
      Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA
    • Journal Title

      Mov Disord.

      Volume: 28 Issue: 8 Pages: 1054-1056

    • DOI

      10.1002/mds.25538

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Journal Article] Alu配列の関連した遺伝子異常が遺伝性疾患を引き起こす2012

    • Author(s)
      深尾敏幸
    • Journal Title

      実験医学

      Volume: 14 Pages: 2240-2246

    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Journal Article] Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders : Evaluation by in vitro probe acylcarnitine assay2012

    • Author(s)
      Yamaguchi S (1/12), Fukao T (11/12), et al
    • Journal Title

      Mol Genet Metab

      Volume: 107 Issue: 1-2 Pages: 87-91

    • DOI

      10.1016/j.ymgme.2012.07.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-24659498, KAKENHI-PUBLICLY-24114507
  • [Journal Article] Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency2012

    • Author(s)
      Purevsuren J, Fukao T (8/9), Yamaguchi S (9/9), et al
    • Journal Title

      Mol Genet Metab

      Volume: 107 Issue: 1-2 Pages: 237-240

    • DOI

      10.1016/j.ymgme.2012.06.010

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-24659498, KAKENHI-PUBLICLY-24114507
  • [Journal Article] Three Japanese patients with beta-ketothiolase deficiency whoshare amutation, c.431A>C(H144P) in ACAT1 : subtle abnormality in urinary organic acid analysis and blood acylvcarnitine analysis using tandem mass spectrometry2012

    • Author(s)
      180. Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM< Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N
    • Journal Title

      JIMD reports

      Volume: 3 Pages: 107-115

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Three Japanese patients with beta-ketothiolase deficiency whoshare a mutation, c. 431A> C(H144P) in ACAT1 : subtle abnormality in urinary organic acid analysis and blood acylvcarnitine analysis using tandem mass spectrometry.2012

    • Author(s)
      Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM<Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N
    • Journal Title

      JIMD reports

      Volume: 3 Pages: 107-115

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Differences between human and rodent pancreatic islets : low pyruvate carboxylase, ATP citrate lyase and pyruvate carboxylation ; high glucose-stimulated acetoacetate in human pancreatic islets2011

    • Author(s)
      Macdonald MJ, Longacre MJ, Stoker SW, Kendrick MA, Thonpho A, Brown LJ, Hasan NM, Jitrapakdee S, Fukao T, Hanson MS, Fernandez LA, Odorico J
    • Journal Title

      J Biol Chem

      Volume: 286 Pages: 18383-18396

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Clinical and molecular characterization of five patients with Succinyl-CoA : 3-ketoacid CoA transferase(SCOT) deficiency2011

    • Author(s)
      Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Varic I, Zabot M-T, Kondo N
    • Journal Title

      Biochimica Biophysica Acta Molecular Basis of Disease

      Volume: 1812 Pages: 619-24

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Three Japanese patients with beta-ketothiolase deficiency whoshare a mutation, c.431A>C(H144P) in ACAT1 : subtle abnormality in urinary organic acid analysis and blood acylvcarnitine analysis using tandem mass spectrometry2011

    • Author(s)
      Fukao T
    • Journal Title

      JIMD Reports

      Volume: 3 Pages: 108-115

    • DOI

      10.1007/8904_2011_72

    • ISBN
      9783642249358, 9783642249365
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-10F00430, KAKENHI-PROJECT-23590849, KAKENHI-PROJECT-24591505, KAKENHI-PUBLICLY-24114507
  • [Journal Article] カルニチンパルミトイルトランスフェラーゼ2欠損症のろ紙血血清のアシルカルニチンプロファイルの経時的変化2011

    • Author(s)
      久保田一生, 深尾敏幸, 堀友博, 小林弘典, 船戸道徳, 長谷川有紀, 山口清次, 近藤直実
    • Journal Title

      日本小児科学会雑誌

      Volume: 115 Pages: 956-960

    • NAID

      10029385674

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Clinical and molecular characterization of five patients with Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency2011

    • Author(s)
      Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Varic I, Zabot M-T, Kondo N
    • Journal Title

      Biochimica Biophysica Acta

      Volume: 1812 Issue: 5 Pages: 619-624

    • DOI

      10.1016/j.bbadis.2011.01.015

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] A novel mutation(c. 951C> T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.2010

    • Author(s)
      Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N
    • Journal Title

      Mol Genet Metab

      Volume: 100 Pages: 339-344

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Carnitine palmitoyltransferase 2 deficiency : The time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.2010

    • Author(s)
      Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N
    • Journal Title

      Tohoku J Exp Med

      Volume: 221 Pages: 191-195

    • NAID

      10027084985

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations.2010

    • Author(s)
      Thummler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D
    • Journal Title

      Tohoku J Exp Med 220

      Pages: 27-31

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Lower Succinyl-CoA : 3-ketoacid-CoA Transferase(SCOT) and ATP Citrate Lyase In Pancreatic Islets of A Rat Model of Type 2 Diabetes : Knockdown of SCOT Inhibits Insulin Release In Rat Insulinoma Cells.2010

    • Author(s)
      Hasan NM, Longacre MJ, Seed-Ahmed M, Kendrick MA, Gu H, Ostenson CG, Fukao T, Macdonald MJ
    • Journal Title

      Arch Biochem Biophys

      Volume: 499(1-2) Pages: 62-68

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] CpG islands around exon 1 in Succinyl-CoA : 3-ketoacid CoA transferase(SCOT) gene were hypomethylated even in human and mouse hepatic tissues where SCOT gene expression was completely suppressed.2010

    • Author(s)
      Fukao T, Zhang G, Matsuo N, Kondo N
    • Journal Title

      Molecular Medicine Reports

      Volume: 3 Pages: 355-359

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Lower Succinyl-CoA : 3-ketoacid-CoA Transferase (SCOT) and ATP Citrate Lyase In Pancreatic Islets of A Rat Model of Type 2 Diabetes : Knockd own of SCOT Inhibits Insulin Release In Rat Insulinoma Cells.2010

    • Author(s)
      Hasan NM, Longacre MJ, Seed-Ahmed M, Kendrick MA, Gu H, Ostenson CG, Fukao T, Macdonald MJ.
    • Journal Title

      Arch Biochem Biophys.

      Volume: 499 Pages: 62-68

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase(T2) deficiency2010

    • Author(s)
      Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TH, Niezen-Koning KE, Wanders RJA, de Koning T, Nguyen LT, Yamaguchi S, Kondo N
    • Journal Title

      Mol Genet Metab

      Volume: 100(1) Pages: 37-41

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl?CoA thiolase gene2010

    • Author(s)
      Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N
    • Journal Title

      Mol Genet Metab

      Volume: 100 Pages: 39-344

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] A neonatal onset succinyl-CoA : 3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.2010

    • Author(s)
      Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T.
    • Journal Title

      J Inherit Metab Dis

      Volume: 33 Pages: 636-636

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] A neonatal onset succinyl-CoA : 3-ketoacid CoA transferase(SCOT)-deficient patient with T435N and c. 658-666dupAACGTGATT p. N220_I222dup mutations in the OXCT1 gene2010

    • Author(s)
      Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T.
    • Journal Title

      J Inherit Metab Dis

      Volume: 33 Pages: 636-636

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Carnitine palmitoyltransferase 2 deficiency : the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation2010

    • Author(s)
      Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N
    • Journal Title

      The Tohoku Journal of Experimental Medicine

      Volume: 221巻 Pages: 191-195

    • NAID

      10027084985

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390208
  • [Journal Article] Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations.2010

    • Author(s)
      Thummler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D
    • Journal Title

      Tohoku J Exp Med

      Volume: 220 Pages: 27-31

    • NAID

      10027082920

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] CpG islands around exon 1 in Succinyl-CoA : 3-ketoacid CoA transferase (SCOT) gene were hypomethylated even in human and mouse hepatic tissues where SCOT gene expression was completely suppressed.2010

    • Author(s)
      Fukao T, Zhang G, Matsuo N, Kondo N
    • Journal Title

      Molecular Medicine Reports 3

      Pages: 335-359

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.2009

    • Author(s)
      Macdonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG
    • Journal Title

      Diabetologia

      Volume: 52 Pages: 1087-1091

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.2009

    • Author(s)
      Macdonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG.
    • Journal Title

      Diabetologia 52

      Pages: 1087-1091

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) : c.449-452delCTGA is a common mutation in Japanese patients with MCADD.2009

    • Author(s)
      Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S
    • Journal Title

      Mol Genet Metab 96

      Pages: 77-79

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency.2009

    • Author(s)
      Purevsuren J, Fukao T, Hasegawa Y, Fukuda S, Kobayashi H, Yamaguchi S.
    • Journal Title

      Mol Genet Metab 98

      Pages: 372-377

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article]2009

    • Author(s)
      浦澤林太郎, 久保徹夫, 深尾敏幸
    • Journal Title

      症例から学ぶ先天代謝異常症~日常診療からのアプローチ~(診断と治療社)

      Pages: 100-102

    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency.2009

    • Author(s)
      Purevsuren J, Fukao T, Hasegawa Y, Fukuda S, Kobayashi H, Yamaguchi S
    • Journal Title

      Mol Genet Metab

      Volume: 98 Pages: 372-377

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Age-related changes in BAFF and APRIL profiles and up-regulated BAFF and APRIL expression in patients with primary antibody deficiency2008

    • Author(s)
      Jin, R., Kaneko, H., Suzuki, H., Arai, T., Teramoto, T., Fukao, T., Kondo, N
    • Journal Title

      Int J Mol Med 21

      Pages: 233-238

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Age-related changes in BAFF and APRIL profiles and up-regulated BAFF and APRIL expression in patients with primary antibody deficiency.2008

    • Author(s)
      Jin R, Kaneko H, Suzuki H, Arai T, Teramoto T, Fukao T, Kondo N
    • Journal Title

      Int J Mol Med 21

      Pages: 233-238

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Kinetic and Expression Analyses of Seven Novel Mutations in Mitochon drial Acetoacetyl-CoA Thiolase(T2): Identification of a K_m Mutant and an Analysis of the Mutational Sites in the Structure.2007

    • Author(s)
      Sakurai S, Fukao T, et. al.
    • Journal Title

      Mol Genet Metab 90

      Pages: 370-378

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Identification and characterization of a temperature-sensitive R2 68H mutation in the human succinyl-CoA: 3-ketoacid CoA transferase(SCOT)gene.2007

    • Author(s)
      Fukao T, et. al.
    • Journal Title

      Mol Genet Metab 92

      Pages: 216-221

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Identification of Ali-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)2007

    • Author(s)
      Fukao, T., Zhang, G., Aoki, Y., Arai, T., Teramoto, T., Kaneko, H., Sugie, H., Kondo, N
    • Journal Title

      Molecular Genetics and Metabolism 92

      Pages: 179-182

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA : 3-ketoacid CoA transferase (SCOT) gene2007

    • Author(s)
      Fukao, T., et. al.
    • Journal Title

      Mol Genet Metab 92(3)

      Pages: 216-221

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase (T2) : the importance of potassium and chloride ions for its structure and function2007

    • Author(s)
      Haapalainen A, Merilinen G, Piril P, Kondo N, Fukao T, Wierenga R
    • Journal Title

      Biochemistry (印刷中)

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Refractory osteomyelitis caused by bacille Calmette-Guerin vaccination: a case report.2007

    • Author(s)
      Funato M, Kaneko H, Matsui E, Teramoto T, Kato Z, Fukao T, Okusu K, Kondo N
    • Journal Title

      Diagn Microbiol Infect Dis. 59

      Pages: 89-91

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] ケトン体代謝異常症:特にアセトン血性嘔吐症と鑑別すべきサクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症を中心に。2007

    • Author(s)
      深尾敏幸
    • Journal Title

      日本小児科学会雑誌 111

      Pages: 723-739

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Clinical improvement of diffuse Iymphangiomatosis with pegylated interferon alfa-2b therapy: case report and review of the literature.2007

    • Author(s)
      Ozeki M, Funato M, Kanda K, Ito M, Teramoto T, Kaneko H, Fukao T, Kondo N
    • Journal Title

      Pediatr Hematol Oncol. 24

      Pages: 513-24

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Identification of Ali-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis(hepatic phosphorylase kinase deficiency).2007

    • Author(s)
      Fukao T, Zhang G, Aoki Y, Arai T, Teramoto T, Kaneko H, Sugie H, Kondo N
    • Journal Title

      Molecular Genetics and Metabolism 92

      Pages: 179-182

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Clinical improvement of diffuse lymphangiomatosis with pegylated interferon alfa-2b therapy : case report and review of the literature2007

    • Author(s)
      Ozeki, M., Funato, M., Kanda, K., Ito, M., Teramoto, T., Kaneko, H., Fukao, T., Kondo N
    • Journal Title

      Pediatr Hematol Oncol 24

      Pages: 513-24

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Lymphcyte Responses to Chymotrypsin-or Trypsin V-Digested β-Lactoglobulin in Patients with Cow's Milk Allergy2007

    • Author(s)
      Kondo, M., Fukao, T., Shinoda, 5., Kawamoto, N., Kaneko, H., Kato, Z., Matsui, E., Teramoto, T., Nakano, T., Kondo, N
    • Journal Title

      Allergy, Asthma, and Clinical Immunology 3

      Pages: 1-9

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] A positive Donath-Landsteiner test in paroxysmal cold haemoglobinuria2007

    • Author(s)
      Funato, M., Kaneko, H., Ozeki, M., Suzuki, H., Orii, K., Teramoto, T., Fukao, T., Kondo, N
    • Journal Title

      Eur J Haematol 76

      Pages: 462-462

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] A positive Donath-Landsteiner test in paroxysmal cold haemoglobinuria.2007

    • Author(s)
      Funato M, Kaneko H, Ozeki M, Suzuki H, Orii K, Teramoto T, Fukao T, Kondo N
    • Journal Title

      Eur J Haematol. 76

      Pages: 462-462

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Identification of Ali-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosp horylase kinase deficiency).2007

    • Author(s)
      Fukao T, Zhang G, Aoki Y, Arai T, Teramoto T, Kaneko H, Sugie H, Kondo N
    • Journal Title

      Molecular Genetics and Metabolism 92

      Pages: 179-182

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Clinical improvement of diffuse lymphangiomatosis with pegylated interferon alfa-2b therapy: case report and review of the literature.2007

    • Author(s)
      Ozeki M, Funato M, Kanda K, Ito M, Teramoto T, Kaneko H, Fukao T, Kondo N
    • Journal Title

      Pediatr Hematol Oncol. 24

      Pages: 513-24

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Refractory osteomyelitis caused by bacille Calmette-Gudrin vaccination : a case report2007

    • Author(s)
      Funato, M., Kaneko, H., Matsui, E., Teramoto, T., Kato, Z., Fukao, T., Okusu, K., Kondo, N
    • Journal Title

      Diagn Microbiol Infect Dis 59

      Pages: 89-91

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Lymphcyte Responses to Chymotrypsin-or Trypsin V-Digested β-Lactoglobulin in Patients with Cow's Milk Allergy.2007

    • Author(s)
      Kondo M, Fukao T. Shinoda S, Kawamo to N, Kaneko H. Kato Z, Matsui E, Teramoto T, Nakano T, Kondo N.
    • Journal Title

      Allergy, Asthma, and Clinical Immunology 3

      Pages: 1-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase(T2)deficiency.2007

    • Author(s)
      Fukao T, et. al.
    • Journal Title

      Mol Genet Metab 92

      Pages: 375-378

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Refractory osteomyelitis caused by bacille Calmette-Guerin vaccination: a case report.2007

    • Author(s)
      Funato M, Kaneko H. Matsui E. Teramoto T, Kato Z, Fukao T, Okusu K, Kondo N
    • Journal Title

      Diagn Microbiol Infect Dis. 59

      Pages: 89-91

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Kinetic and Expression Analyses of Seven Novel Mutations in Mitochondrial Acetoacetyl-CoA Thiolase (T2) : Identification of a K_m Mutant and an Analysis of the Mutational Sites in the Structure.2007

    • Author(s)
      Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada S, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJA, Mitchell GA, Wierenga RK, Kondo N
    • Journal Title

      Mol Genet Metab (印刷中)

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency2007

    • Author(s)
      Fukao, T., et. al.
    • Journal Title

      Mol Get Metab 92(4)

      Pages: 375-378

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA: 3-ketoacid CoA transferase(SCOT)gene.2007

    • Author(s)
      Fukao T, et. al.
    • Journal Title

      Mol Genet Metab 92

      Pages: 216-221

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Lymphcyte Responses to Chymotrypsin-or Trypsin V-Digested β-Lactoglobulin in Patients with Cow's Milk Allergy.2007

    • Author(s)
      Kondo M, Fukao T, Shinoda S, Kawamoto N, Kaneko H, Kato Z, Matsui E, Teramoto T, Nakano T, Kondo N.
    • Journal Title

      Allergy, Asthma, and Clinical Immunology 3

      Pages: 1-9

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA : 3-ketoacid CoA transferase (SCOT) deficiency2006

    • Author(s)
      Fukao, T., et. al.
    • Journal Title

      Mol Genet Metab 89

      Pages: 280-282

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Pharmacokinetics of Beclomethasone Dipropionate in an hydrofluoroalkane-134a propellant system in Japanese children with bronchial asthma2006

    • Author(s)
      Teramoto T, Fukao T, Tomita Y, Terauchi Y, Hosoi K, Matsui E, Aoki M, Kondo N, Mikawa H
    • Journal Title

      Allergology International 55

      Pages: 317-320

    • NAID

      10019286617

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.2006

    • Author(s)
      Zhang G, Fukao T, Sakurai S, Yamada K, Michael Gibson K, Kondo N
    • Journal Title

      Mol Genet Metab 89

      Pages: 222-226

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Regulation of the Atm promoter in vivo.2006

    • Author(s)
      Gueven N, Fukao T, Luff J, Paterson C, Kay G, Kondo N, Lavin MF.
    • Journal Title

      Genes Chromosomes Cancer. 45(1)

      Pages: 61-71

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Single-base substitution at the last nucleotide of exon 6 (c.671G>A),resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA : 3-ketoacid CoA transferase (SCOT) gene.2006

    • Author(s)
      Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JPN, Wanders RJA, Kondo N
    • Journal Title

      Mol Genet Metab 90

      Pages: 291-297

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2sulfatase : enzymatic activity, protein processing and structural analysis.2006

    • Author(s)
      Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K, Orii T, Kondo N
    • Journal Title

      J Inherit Metab Dis. 29

      Pages: 755-761

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Age-related changes in intracellular cytokine profiles and Th2 dominance in allergic children.2006

    • Author(s)
      Kawamoto N, Kaneko H, Takemura M, Seishima M, Sakurai S, Fukao T, Kasahara K, Iwasa S, Kondo N
    • Journal Title

      Pediatr Allergy Immunol 17

      Pages: 125-133

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-ketoacid CoA transferase(SCOT)deficiency.2006

    • Author(s)
      Fukao T, et. al.
    • Journal Title

      Mol Genet Metab 89

      Pages: 280-282

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] Regulation of the Atm promoter in vivo.2006

    • Author(s)
      Gueven N, Fukao T, Luff J, Paterson C, Kay G, Kondo N, Lavin MF.
    • Journal Title

      Genes Chromosomes Cancer 45

      Pages: 61-71

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.2006

    • Author(s)
      Funato M, Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Imamura Y, Matsumoto T, Tsukamoto T, Kojidani T, Osumi T, Fukao T, Kondo N.
    • Journal Title

      Brain Dev. 28

      Pages: 287-292

    • NAID

      10020330709

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA : 3-ketoacid CoA transferase (SCOT) deficiency.2006

    • Author(s)
      Fukao T, Sakurai S, Rolland M-O, Zabot M-T, Schulze A, Yamada K, Kondo N
    • Journal Title

      Mol Genet Metab 89

      Pages: 280-282

    • Data Source
      KAKENHI-PROJECT-18591148
  • [Journal Article] A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases2005

    • Author(s)
      Toshiyuki Fukao, Osamu Fukutomi, Kouichiro Hirayama, Takahide Teramoto, Hideo Kaneko, Masashi Kondo, Eiko, Matsui, Naomi Kondo
    • Journal Title

      Int J Mol Med. 16

      Pages: 827-831

    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family.2005

    • Author(s)
      Kaneko H, Kawamoto N, Asano T, Mabuchi Y, Horikoshi H, Teramoto T, Matsui E, Kondo M, Fukao T, Kasahara K, Kondo N.
    • Journal Title

      Clin Exp Immunol. 140

      Pages: 520-523

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases2005

    • Author(s)
      Yoshikawa K, Matsui E, Kaneko H, Fukao T, Inoue R, Teramoto T, Shinoda S, Fukutomi O, Aoki M, Kasahara K, Kondo N
    • Journal Title

      Int J Mol Med. 16

      Pages: 827-831

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] High resolution crystal structures of human cytosolic thiolase (CT). A comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I.2005

    • Author(s)
      Kursula P, Sikkila H, Fukao T, Kondo N, Wierenga RK
    • Journal Title

      J Mol Biol. 347

      Pages: 189-201

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] A common variable e immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome.2005

    • Author(s)
      Kondo M, Fukao T, Teramoto T, Kaneko H, Takahashi Y, Okamoto H, Kondo N.
    • Journal Title

      Pediatr Allergy Immunol. 16

      Pages: 357-360

    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family.2005

    • Author(s)
      Kaneko H, Kawamoto N, Asano T, Mabuchi Y, Horikoshi H, Teramoto T, Matsui E, Kondo M, Fukao T, Kasahara K, Kondo N.
    • Journal Title

      Clin Exp Immunol. 140

      Pages: 520-523

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family.2005

    • Author(s)
      Kaneko H, Kawamoto N, Asano T, Mabuchi Y, Horikoshi H, Teramoto T, Matsui E, Kondo M, Fukao T, Kasahara K, Kondo N
    • Journal Title

      Clin Exp Immunol. 140

      Pages: 520-523

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases.2005

    • Author(s)
      Yoshikawa K, Matsui E, Kaneko H, Fukao T, Inoue R, Teramoto T, Shinoda S, Fukutomi O, Aoki M, Kasahara K, Kondo N.
    • Journal Title

      Int J Mol Med. 16

      Pages: 827-831

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Questionnaire-based study on the relationship between pet-keeping and allergic diseases in young children in Japan.2005

    • Author(s)
      Fukao T, Fukutomi O, Hirayama K, Teramoto T, Kaneko H, Kondo M, Matsui E, Kondo N.
    • Journal Title

      Allergol International 54

      Pages: 521-526

    • NAID

      10016880688

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Characterization of T-cell clones specific to ovomucoid from patients with egg-white allergy.2005

    • Author(s)
      Kondo M, Suzuki K, Inoue R, Sakaguchi H, Matsukuma E, Kato Z, Kaneko H, Fukao T, Kondo N
    • Journal Title

      J Investig Allergol Clin Immunol. 15

      Pages: 107-111

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] IL-12B Promoter Polymorphism Associated with Asthma and IL-12B Transcriptional Activity2005

    • Author(s)
      Koji Tatebayashi, Eiko Matsui, Hideo Kaneko, Toshiyuki Fukao, Kimiko Kasahara, Naomi Kondo
    • Journal Title

      Allergology International 3

      Pages: 451-459

    • NAID

      130004476850

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome.2005

    • Author(s)
      Kondo M, Fukao T, Teramoto T, Takahashi Y, Okamoto H, Kondo N
    • Journal Title

      Pediatr Allergy Immunol. 16

      Pages: 357-360

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome.2005

    • Author(s)
      Kondo M, Fukao T, Teramoto T, Kaneko H, Takahashi Y, Okamoto H, Kondo N
    • Journal Title

      Pediatric Allergy and Immunology 16

      Pages: 357-360

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency2005

    • Author(s)
      Mrazova L, Fukao T, Halovd K, Gregova E, Kohut V, Pribyl D, Chrastina P, Kondo N, Pospisilova E.
    • Journal Title

      J Inherit Metab Dis. 28

      Pages: 235-236

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] IL-12B promotor polymorphism associated with asthma and IL-12B transcriptional activity.2005

    • Author(s)
      Tatebayashi K, Matsui E, Kaneko H, Fukao T, Kasahara K, Kondo N.
    • Journal Title

      Allergol Int 54

      Pages: 345-349

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency2005

    • Author(s)
      Mrazova L, Fukao T, Halovd K, Gregova E, Kohut V, Pribyl D, Chrastina P, Kondo N, Pospisilova E
    • Journal Title

      J Inherit Metab Dis 28

      Pages: 235-236

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Characterization of T-cell clones specific to ovomucoid from patients with egg-white allergy.2005

    • Author(s)
      Kondo M, Suzuki K, Inoue R, Sakaguchi H, Matsukuma E, Kato Z, Kaneko H, Fukao T, Kondo N
    • Journal Title

      J Investig Allergol Clin Immunol 15

      Pages: 107-111

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.2005

    • Author(s)
      Kato T, Kato Z, Kuratsubo I, Tanaka N, Ishigami T, Kajihar J, Sukegawa-Hayasaka K, Orii K, Isogai K, Fukao T, Shimozawa N, Orii T, Kondo N, Suzuki Y.
    • Journal Title

      J Hum Genet 50

      Pages: 395-402

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family.2005

    • Author(s)
      Kaneko H, Kawamoto N, Asano T, Mabuchi Y, Horikoshi H, Teramoto T, Matsui E, Kondo M, Fukao T, Kasahara K, Kondo N
    • Journal Title

      Clin Exp Immunol. 140

      Pages: 520-523

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome.2005

    • Author(s)
      Kondo M, Fukao T, Teramoto T, Kaneko H, Takahashi Y, Okamoto H, Kondo N.
    • Journal Title

      Pediatric Allergy and Immunology 16

      Pages: 357-360

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] IL-12B promotor polymorphism associated with asthma and IL-12B transcriptional activity.2005

    • Author(s)
      Tatebayashi K, Matsui E, Kaneko H, Fukao T, Kasahara K, Kondo N.
    • Journal Title

      Allergol International 54

      Pages: 345-349

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases.2005

    • Author(s)
      Yoshikawa K, Matsui E, Kaneko H, Fukao T, Inoue R, Teramoto T, Shinoda S, Fukutomi O, Aoki M, Kasahara K. Kbndo N.
    • Journal Title

      Int J Mol Med 16

      Pages: 827-831

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Questionnaire-based study on the relationship between pet-keeping and allergic diseases in young children in Japan.2005

    • Author(s)
      Fukao T
    • Journal Title

      Allergol International 54

      Pages: 521-526

    • NAID

      10016880688

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.2005

    • Author(s)
      Kato T, Kato Z, Kuratsubo I, Tanaka N, Ishigami T, Kajihara J, Sukegawa-Hayasaka K, Orii K, Isogai K, Fukao T, Shimozawa N, Orii T, Kondo N, Suzuki Y.
    • Journal Title

      J Hum Genet 50

      Pages: 395-402

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] High resolution crystal structures of human cytosolic thiolase (CT). A comparison of the active sites of human CT, bacterial thiolase, and bacterial KASI2005

    • Author(s)
      Kursula P, Sikkila H, Fukao T, Kondo N, Wierenga RK
    • Journal Title

      J Mol Biol 347

      Pages: 189-201

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Disruption of BLM gene in ATM-null DT40 cells dose not exacerbate either phenotype.2004

    • Author(s)
      Fukao T, Kaneko H, et al.
    • Journal Title

      Oncogene 23

      Pages: 1498-1506

    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] NOVEL DEVELOPMENTS ON GENETIC RECOMBINATION : DNA DOUBLE STRAND BREAK AND DNA END-JOINING2004

    • Author(s)
      Kaneko H, Fukao T, Kondo N
    • Journal Title

      Advances Biophysics 33

      Pages: 45-64

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Identification of somatic and germ-line mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.2004

    • Author(s)
      Nagao-Watanabe M, Fukao T, et al.
    • Journal Title

      Clin Genet 66

      Pages: 236-238

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype.2004

    • Author(s)
      Fukao T, Chen P, Ren J, Kaneko H, Zhang GX, Kondo M, Yamamoto K, Furuichi Y, Takeda S, Kondo N, Lavin MF
    • Journal Title

      Oncogene 23

      Pages: 1498-1506

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA transferase (SCOT) do not show permanent ketosis.2004

    • Author(s)
      Fukao T, Shintaku H, Kusubae R, Zhang X-Q, Nakamura K, Kondo M, Kondo N.
    • Journal Title

      Pediatr Res 56

      Pages: 858-863

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] The mitochondrial acetoacetyl- CoA thiolase (T2) deficiency : T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA2004

    • Author(s)
      Zhang G-X, Fukao T, et al.
    • Journal Title

      Pediatr Res 56

      Pages: 60-64

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Molecular analysis of B-cell differentiation in selective or partial IgA deficiency.2004

    • Author(s)
      Asano T, Kaneko H, Terada T, Kasahara Y, Fukao T, Kasahara K, Kondo N
    • Journal Title

      Clin Exp Immunol 136

      Pages: 284-290

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype2004

    • Author(s)
      Fukao T
    • Journal Title

      Oncogene 23

      Pages: 1498-1506

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Succinyl-CoA:3-keto acid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.2004

    • Author(s)
      Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM
    • Journal Title

      J Inherit Metab Dis 27

      Pages: 691-692

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Relatively common mutations of the Bloom syndrome gene in the Japanese population.2004

    • Author(s)
      Kaneko H, Isogai K, Fukao T, Matsui E, Kasahara K, Yachie A, Seki H, Koizumi S, Arai M, Utunomiya J, Miki Y, Kondo N
    • Journal Title

      Int J Mol Med 14

      Pages: 439-442

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Patients homozygous for the T435N mutation of succinyl-CoA:3-keto acid CoA transferase (SCOT) do not show permanent ketosis2004

    • Author(s)
      Fukao T, et al.
    • Journal Title

      Pediatr Res 56

      Pages: 858-863

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining.2004

    • Author(s)
      Kaneko H., Fukao T., Kondo N.
    • Journal Title

      Advances in Biophysics 38

      Pages: 45-64

    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Pathways and control of ketone body metabolism : on the fringe of lipid biochemistry.2004

    • Author(s)
      Fukao T
    • Journal Title

      Prostaglandins, Leukotrienes and Essential Fatty Acid 70

      Pages: 77-85

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] RNA editing of interleukin-12 receptor beta2, 2451 C-to-U (Ala 604 Val) conversion, associated with atopy.2004

    • Author(s)
      Kondo N, Matsui E, Kaneko H, Aoki M, Kato Z, Fukao T, Kasahara K, Morimoto N
    • Journal Title

      Clin Exp Allergy 34(3)

      Pages: 363-368

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Pathways and control of ketone body metabolism : on the fringe of lipid biochemisitry.2004

    • Author(s)
      Fukao T, Lopaschuk GD, Mitchell GA
    • Journal Title

      Prostaglandins, Leukotrienes and Essential Fatty Acid 70

      Pages: 243-251

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotyne.2004

    • Author(s)
      Fukao T, et al.
    • Journal Title

      Oncogene 23

      Pages: 1498-1506

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Identification of somatic and germ-line mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.2004

    • Author(s)
      Nagao-Watanabe M, Fukao T, Matsui E, Kaneko H, Inoue R, Kawamoto N, Kasahara K, Nagai M, Ichiki Y, Kitajima Y, Kondo N
    • Journal Title

      Clin Genet 66

      Pages: 236-238

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Succinyl-CoA:3-keto acid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.2004

    • Author(s)
      Longo N, Fukao T, et al.
    • Journal Title

      J Inherit Metab Dis 27

      Pages: 691-692

    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency : T2-deficient patients with メ mild モ mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.2004

    • Author(s)
      Zhang G-X, Fukao T, Rolland M-O, Zabot M-T, Renom G, Touma E, Kondo M, Matsuo N, Kondo N
    • Journal Title

      Pediatr Res 56

      Pages: 60-64

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] Patients homozygous for the T435N mutation of succinyl-CoA : 3-ketoacid CoA transferase (SCOT) do not show permanent ketosis.2004

    • Author(s)
      Fukao T
    • Journal Title

      Pediatr Res 56

      Pages: 858-863

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

    • Author(s)
      169. Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N
    • Journal Title

      Mol Genet Metab (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.

    • Author(s)
      Funato M, Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Imamura Y, Matsumoto T, Tsukamoto T, Kojidani T, Osumi T, Fukao T, Kondo N.
    • Journal Title

      Brain Dev. (In press)

    • NAID

      10020330709

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591019
  • [Journal Article] The response of bovine beta-lactoglobulin-specific T-cell clones to single amino acid substitutions of T-cell core epitope

    • Author(s)
      Kondo, M., Kaneko, H., Fukao, T., Suzuki, K., Sakaguchi, H., Shinoda, S., Kato, Z., Matsui, E., Teramoto, T., Nakano, T., Kondo, N
    • Journal Title

      Pediatric Allergy and Immunology (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] The response of bovine beta-lactoglobulin-specific T-cell clones to single amino acid substitutions of T-cell core epitope

    • Author(s)
      Kondo M, Kaneko H, Fukao T, Suzuki K, Sakaguchi H, Shinoda S, Kato Z, Matsui E, Teramoto T, Nakano T, Kondo N.
    • Journal Title

      Pediatric Allergy and Immunology (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] Age-related changes in intracellular cytokine profiles and Th2 dominance in allergic children.

    • Author(s)
      Kawamoto N, Kaneko H, Takemura M, Seishima M, Sakurai S, Fukao T, Kasahara K, Iwasa S, Kondo N.
    • Journal Title

      Pediatric Akkergy and Immunology (in press)

    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] Age-related changes in intracellular cytokine profiles and Th2 dominance in allergic children.

    • Author(s)
      Kawamoto N, Kaneko H, Takemura M, Seishima M, Sakurai S, Fukao T, Kasahara K, Iwasa S, Kondo N.
    • Journal Title

      Pediatric Allergy and Immunology (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Journal Article] The response of bovine beta-lactoglobulin-specific T-cell clones to single amino acid substitutions of T-cell core epitope

    • Author(s)
      Kondo M, Kaneko H, Fukao T, Suzuki K, Sakaguchi H, Shinoda S, Kato Z, Matsui E, Teramoto T, Nakano T, Kondo N.
    • Journal Title

      Pediatric Allergy and Immunology (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

    • Author(s)
      Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TH, Niezen-Koning KE, Wanders RJA, de Koning T, Nguyen LT, Yamaguchi S, Kondo N
    • Journal Title

      Mol Genet Metab (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Journal Article] Age-related changes in intracellular cytokine profiles and Th2 dominance in allergic children.

    • Author(s)
      Kawamoto N, Kaneko H, Takemura M, Seishima M, Sakurai S, Fukao T, Kasahara K, Iwasa S, Kondo N
    • Journal Title

      Pediatric Allergy and Immunology (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591020
  • [Presentation] Urinary organic acid profiles in mitochondrial HMG-CoA synthase deficiency2018

    • Author(s)
      Watanabe Y, Fukui K, Tashiro K, Sasai H, Fukao T, Hasegawa K, Y, Uchimura N, Yamashita Y
    • Organizer
      Annual symposium of the society for the study of inborn errors of metabolism
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] 絶食負荷による3ヒドロキシ酪酸脱水素酵素(Bdh1)KOマウスの病態解析2018

    • Author(s)
      大塚 博樹, 木村 豪, 吾郷 耕彦, 仲間 美奈, Abdelkreem Elsayed, 青山 友佳, 笹井 英雄, 大西 秀典, 大沢 匡毅, 川島 祐介, 小原 収, 山口 清次, 深尾 敏幸
    • Organizer
      日本小児科学会学術集会(第121回)
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Characterization of HMGCS2 identified in Japanese patients with its deficiency2018

    • Author(s)
      Ago Y, Otsuka H, Abdelkreem E, Sasai H, Nakama M, Aoyama Y, Nishimura Y, Watanabe Y, Fukui K, Akiyama K, Lee T, Nakajima Y, Ito T, Ohnishi H, Fukao T
    • Organizer
      日本先天代謝異常学会総会(第60回)
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Beta-Ketothiolase deficiency: unusual clinical presentation of non-ketotic hypoglycemic episodes due to secondary carnitine deficiency2018

    • Author(s)
      Alijanpour M, Sasai H, Abdelkreem E, Ago Y, Soleimani S, Moslem L, Yamaguchi S, Rezapour M, Taghi M, Matsumoto H, Fukao T
    • Organizer
      Annual symposium of the society for the study of inborn errors of metabolism
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] 乳児期の3ヒドロキシ酪酸脱水素酵素(Bdh1)KOマウスにおける絶食負荷試験2018

    • Author(s)
      大塚 博樹, 木村 豪, 吾郷 耕彦, 仲間 美奈, 青山 友佳, Elsayed Abdelkreem, 松本 英樹, 笹井 英雄, 大西 秀典, 深尾 敏幸
    • Organizer
      日本先天代謝異常学会総会(第60回)
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Recent advances of defect in ketone body metabolism2018

    • Author(s)
      Fukao T
    • Organizer
      The 5th Asian Congress of Inherited Metabolic Diseases
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Defects in Ketone body metabolism and their newborn screening2018

    • Author(s)
      Fukao T
    • Organizer
      The 18th Annual Meeting of Korean Society of Inherited Metabolic Diseases
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] リコンビナントHSD17B10タンパクを用いたHSD10病の病態解析2017

    • Author(s)
      笹井 英雄, 大西 秀典, 赤川 翔平, 秋葉 和壽, 長谷川 行洋, 小林 正久, 大塚 博樹, 青山 友佳, 深尾 敏幸
    • Organizer
      日本先天代謝異常学会(第59回)
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Heterozygous Carriers of Succinyl-CoA:3-oxoacid CoA Transferase Deficiency Can Develop Severe Ketoacidosis2017

    • Author(s)
      Sasai H., Aoyama Y., Otsuka H., Abdelkreem E., Naiki Y., Kubota M., Sekine Y., Itoh M., Nakama M., Ohnishi H., Fujiki R., Ohara O., Fukao T
    • Organizer
      13th the International Congress of Inborn Errors of Metabolism
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Insufficient Ketogenesis in 3-hydroxybutyrate Dehydrogenase (Bdh1) KO Mice in Fasting Test2017

    • Author(s)
      Otsuka H., Kimura T., Ago Y., Sasai H., Nakama M., Aoyama Y., Abrelkreem E., Ohnishi H., Osawa M., Yamaguchi S., Kawashima Y., Ohara O., Fukao T
    • Organizer
      3th the International Congress of Inborn Errors of Metabolism
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] 絶食負荷試験において3ヒドロキシ酪酸脱水素酵素(Bdh1)KOマウスではケトン体産生が障害される2017

    • Author(s)
      大塚 博樹, 木村 豪, 吾郷 耕彦, 仲間 美奈, Abdelkreem Elsayed, 青山 友佳, 笹井 英雄, 大西 秀典, 大沢 匡毅, 川島 祐介, 小原 収, 山口 清次, 深尾 敏幸
    • Organizer
      日本先天代謝異常学会(第59回)
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Genetic Diseases of Ketone Body Metabolism2017

    • Author(s)
      Fukao T
    • Organizer
      The 12th Asia-Pacific Conference on Human Genetics
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Japan-wide gene panel study for target metabolic diseases in newborn mass screening using tandem mass spectrometry2016

    • Author(s)
      Sasai H, Otsuka H, Fujiki R, Ohara O, Nakajima Y, Ito T, Kobayashi M, Tajima G, Sakamoto O, Matsumoto S, Nakamura K, Hamazaki T, Kobayashi H, Hasegawa Y, Fukao
    • Organizer
      Annual symposium of the society for the study of inborn erroros of metabolism
    • Place of Presentation
      ローマ
    • Year and Date
      2016-09-06
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Disorders of Ketone Body Synthesis2016

    • Author(s)
      Fukao T
    • Organizer
      The International Network for Fatty Acid Oxidation Research and Management (INFORM)
    • Place of Presentation
      ボストン
    • Year and Date
      2016-05-09
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] An IVS9-9T>A substitution identified in beta-ketothiolase deficient patients results in exon 10 skipping in most transcripts of ACAT1 gene2016

    • Author(s)
      Fukao T, Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Nakama M, Ohnishi H, Turner L, Sweetman L
    • Organizer
      Annual symposium of the society for the study of inborn erroros of metabolism
    • Place of Presentation
      ローマ
    • Year and Date
      2016-09-06
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] 治療法向上を目的としたマススクリーニング対象疾患の遺伝型評価:分野別シンポジウム 今後検討すべき新生児マススクリーニング対象疾患.2016

    • Author(s)
      深尾敏幸
    • Organizer
      日本小児科学会学術集会 (第119回)
    • Place of Presentation
      札幌
    • Year and Date
      2016-05-13
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] マススクリーニング対象疾患の診療ネットワーク体制:分野別シンポジウム 先天代謝異常症の早期診断、治療に向けた診療ネットワーク2016

    • Author(s)
      深尾敏幸
    • Organizer
      日本小児科学会学術集会 (第119回)
    • Place of Presentation
      札幌
    • Year and Date
      2016-05-13
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K09962
  • [Presentation] Metabolism of ketone bodies and its defects2015

    • Author(s)
      Fukao T
    • Organizer
      X Congreso Latinamericano De Errores Innatos Del Metabolisomo Y Pesquisa Neonatal
    • Place of Presentation
      Santiago (Chile)
    • Year and Date
      2015-11-17
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] Ketolysis and Ketogenesis Defects2015

    • Author(s)
      Fukao T
    • Organizer
      XIII Metabolic Diseases and Nutrition Congress
    • Place of Presentation
      Adana (Turkey)
    • Year and Date
      2015-04-14
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] Two patients with atypical form and one with infantile form of HSD10 disease were identified in Japan2015

    • Author(s)
      Fukao T, Sasai H, Aoyama Y, Akiba K, Goto M, Hasegawa Y, Kobayashi M, Ida H, Akagawa S, Hasegawa Y, Yamaguchi S, Shigematsu Y
    • Organizer
      Annual symposium of the society for the study of inborn erroros of metabolism
    • Place of Presentation
      Lyon (France)
    • Year and Date
      2015-09-01
    • Int'l Joint Research
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] Organic academia and beta-oxidation defects: expanded neonatal screening in Japan2015

    • Author(s)
      Fukao T
    • Organizer
      X Congreso Latinamericano De Errores Innatos Del Metabolisomo Y Pesquisa Neonatal
    • Place of Presentation
      Santiago (Chile)
    • Year and Date
      2015-11-17
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] Development of MLPA and identification of a heterozygous alu-associated deletion including exons 2-4 in a patient with HMGCL deficiency.2013

    • Author(s)
      Aoyama Y, Ishige M, Tanaka T, Fukao T
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases.
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Presentation] Ketone body metabolism and its defects. Update.2013

    • Author(s)
      Fukao T.
    • Organizer
      12th International Congress of Inborn Errors of Metabolism
    • Place of Presentation
      Barcelona
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and newborn screening in Japan2013

    • Author(s)
      Yamaguchi S(1/11), Fukao T(9/11), et al
    • Organizer
      2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium (NBS&GTS) and the International Society for Neonatal Screening (ISNS)
    • Place of Presentation
      Atlanta Marriott Marquis, Atlanta, USA
    • Data Source
      KAKENHI-PROJECT-22390208
  • [Presentation] ケトン体代謝異常症と急性脳症2013

    • Author(s)
      深尾敏幸
    • Organizer
      第18回日本神経感染症学会
    • Place of Presentation
      宮崎
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] The first case of HSD10 disease (2-Methyl-3-Hydroxybutyryl-CoA dehydrogenase deficiency) from Asia2013

    • Author(s)
      Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Hasegawa Y, Shigematsu Y, Ohtake A, Moriyama Y, Usuda N, Hasegawa Y
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Inborn errors of ketogenesis and ketone body utilization.2013

    • Author(s)
      Fukao T
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases
    • Place of Presentation
      幕張
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Presentation] The firse case of HSD10 disease (2-Methyl-3-Hydroxybutyryl-coA dehydrogenase deficiency) from Asia2013

    • Author(s)
      Fukao T, Akida K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Hasegawa Y, Shigematsu Y, Ohtake A, Moriyama Y, Usuda N, Hsegawa Y
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
    • Place of Presentation
      Tokyo Bay Maihama Hotel Club Resort, Chiba
    • Data Source
      KAKENHI-PROJECT-22390208
  • [Presentation] 日本初のHSD10病(2-methyl-3-hydroxybutryl-CoA 脱水素酵素欠損症)の報告2013

    • Author(s)
      深尾敏幸, 秋葉和壽, 桑山信希, 森田実喜子, 青山友佳、後藤正博, Venkatesan Rajaran, Rikkert Wierenga、臼田信光、森山陽介、重松陽介、長谷川有紀、大竹明、村山圭、堀友博、長谷川行洋
    • Organizer
      第58回日本人類遺伝学会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] (Educational lecture) Inborn errors of ketogenesis and ketone body utilization2013

    • Author(s)
      Fukao T
    • Organizer
      The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Ketone body metabolism and its defects. Update.2013

    • Author(s)
      Fukao T
    • Organizer
      12th International Congress of Inborn Errors of Metabolism,
    • Place of Presentation
      バルセロナ,(スペイン)
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Presentation] HMG-CoAリアーゼ欠損症のMPLA法の確立と1症例におけるエクソン2-4を含む欠失の同定2013

    • Author(s)
      青山 友佳, 石毛 美夏,田中 藤樹,深尾 敏幸
    • Organizer
      第40回日本マススクリーニング学会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Molecular basis of two exon skipping (exons 12 and 13) by c. 1248+5GA in fibroblasts from a SCOT deficient patient. Study of splicing order in SCOT transcripts in fibroblasts from controls and the patient.2012

    • Author(s)
      Hori T, Fukao T, Harding CO, Kondo N.
    • Organizer
      Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Birmingham, UK
    • Year and Date
      2012-09-04
    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Presentation] An Exonic splicing enhancer mutation indetified in German beta-ketothiolase deficient patients.2012

    • Author(s)
      Fukao T, Sass JO, Konstantopoulou V, Marquardt T, Frauendienst-Egger G, Kondo N.
    • Organizer
      Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Birmingham, UK
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] 新生児期に発症したミトコンドリア呼吸鎖異常症の1例2012

    • Author(s)
      森本将敬,深尾敏幸,折居建治,寺本貴英,松井永子,加藤善一郎,大竹明,村山圭,高柳正樹,近藤直実
    • Organizer
      第54回日本先天代謝異常学会総会
    • Place of Presentation
      岐阜
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] ケトン体代謝異常症の病態解明に関する研究2012

    • Author(s)
      深尾敏幸
    • Organizer
      第54回日本先天代謝異常学会総会
    • Place of Presentation
      岐阜
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] 新生児期にGA2と診断され,生後5か月よりBEZ投与を開始した二絨毛膜二羊膜双胎例2012

    • Author(s)
      大塚博樹,深尾敏幸,森本将敬,折居建治,山田健治,小林弘典,長谷川有紀,山口清次,近藤直実
    • Organizer
      第54回日本先天代謝異常学会総会
    • Place of Presentation
      岐阜
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] ケトン体代謝異常症の病態解明に関する研究.日本先天代謝異常学会学会賞受賞講演2012

    • Author(s)
      深尾敏幸
    • Organizer
      第54回日本先天代謝異常学会総会
    • Place of Presentation
      十六プラザ、岐阜
    • Year and Date
      2012-11-15
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Presentation] 躁病様行動にバルプロ酸が有効であった移植後思春期大脳型副腎白質ジストロフィーの1例2012

    • Author(s)
      小関道夫,神田香織,川本典生,折居建治,加藤善一郎,深尾敏幸,近藤直実,下澤伸行,鈴木康之,植木啓文
    • Organizer
      第54回日本先天代謝異常学会総会
    • Place of Presentation
      岐阜
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] 新生児期に診断され,良好な経過を示している3-ヒドロキシ3-メチルグルタル酸血症の1例.2012

    • Author(s)
      大倉絵梨,長沼邦明,中田節子,萩元緑朗,佐野葉子,多田明良,山口清次,長谷川有紀,小林弘典,深尾敏幸
    • Organizer
      第54回日本先天代謝異常学会総会
    • Place of Presentation
      岐阜
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] An Exonic splicing enhancer mutation indetified in German beta-ketothiolase deficient patients.2012

    • Author(s)
      Fukao T, Sass JO, Konstantopoulou V, Marquardt T, Frauendienst-Egger G, Kondo N.
    • Organizer
      Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Birmingham, UK
    • Year and Date
      2012-09-04
    • Data Source
      KAKENHI-PUBLICLY-24114507
  • [Presentation] Molecular basis of two exon skipping (exons 12 and 13) by c. 1248+5G>A in fibroblasts from a SCOT deficient patient. Study of splicing order in SCOT transcripts in fibroblasts from controls and the patient.2012

    • Author(s)
      Hori T, Fukao T, Harding CO, Kondo N.
    • Organizer
      Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Birmingham, UK
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Establishment of MLPA method for ACAT1 gene and identification of in tragene deletions and duplication caused by Alu sequence-mediated nonequal homologous recombination in beta-ketothiolase deficiency2011

    • Author(s)
      Fukao T, Hori T, Boneh A, Kondo N
    • Organizer
      Annual symposium of Society for the Study of In born Errors of Metabolism
    • Place of Presentation
      Geneva, Swizerland
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Establishment of MLPA method for ACAT1 gene and identification of intragene deletions and duplication caused by Alu sequence-mediated non-equal homologous recombination in beta-ketothiolase deficiency2011

    • Author(s)
      Fukao T, Hori T, Boneh A, Kondo N
    • Organizer
      2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Geneva, Swizerland
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断:MLPA法の確立とエクソン欠失、重複の検出2011

    • Author(s)
      深尾敏幸, 堀友博, 近藤直実
    • Organizer
      第53回日本先天代謝異常学会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] A hypolipidemic drug, bezafibrate, can be a new treatment option for mitochondrial fatty acid oxidation disorders2011

    • Author(s)
      Yamaguchi S (1/8), Fukao T (7/8), et al
    • Organizer
      The 7th Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Colorado Convention Center, Denver, USA
    • Data Source
      KAKENHI-PROJECT-22390208
  • [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断: MLPA法の確立とエクソン欠失、重複の検出2011

    • Author(s)
      深尾敏幸,堀友博,近藤直実
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断:MLPA法の確立とエクソン欠失、重複の検出2011

    • Author(s)
      深尾敏幸, 堀友博, 近藤直実
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 急性胃腸炎を契機に発見されたSCOT(サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ)欠損症の1例2011

    • Author(s)
      岡和田祥子、跡部真人、大木乃理子、後藤孝匡、廣瀬彬、山内豊浩、関根裕司、古田千左子、黒澤茶茶、勝又元、加藤寛幸、深尾敏幸
    • Organizer
      第251回日本小児科学会東海地方会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-02-06
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 急性胃腸炎を契機に発見されたSCOT(サクシニル-CoA : 3-ケト酸CoAトランスフェラーゼ)欠損症の1例2011

    • Author(s)
      岡和田祥子,加藤寛幸,勝又元,古田千左子,関根裕司,山内豊浩,深尾敏幸
    • Organizer
      第53回日本先天代謝異常学会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] HMG-CoA lyase deficiency in Japan : Questionnaire-based follow-up study2011

    • Author(s)
      Fukao T, Yamaguchi S, Takayanagi m, Shigematsu Y, Ishige M, Tanaka T, Takahashi T, Ihara T, Murakami J, Ohtsu Y, Onigata K, Kosaka K, Yorifuji T, Kondo N
    • Organizer
      2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Geneva, Swizerland
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 日本人HMG-CoAリアーゼ欠損症の臨床像:研究班におけるアンケート調査から2011

    • Author(s)
      深尾敏幸、山口清次、高柳正樹、重松陽介、新宅治夫、堀川玲子
    • Organizer
      第53回日本先天代謝異常学会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 先天性ケトン体代謝異常症の発症形態と患者数の把握のための調査研究2011

    • Author(s)
      深尾敏幸
    • Organizer
      第14回中部出生前医療研究会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-03-05
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 日本人HMG-CoAリアーゼ欠損症の臨床像:研究班におけるアンケート調査結果から2011

    • Author(s)
      深尾敏幸
    • Organizer
      第53回日本先天性代謝異常学会
    • Place of Presentation
      ホテルニューオータニ幕張(千葉市)
    • Year and Date
      2011-11-25
    • Data Source
      KAKENHI-PROJECT-22390208
  • [Presentation] SCOT hnRNAにおけるスプライシングオーダー:エクソン12と13をスキップする症例の解析2011

    • Author(s)
      堀友博,深尾敏幸, Paul M. Fernhoff, Cary Harding,近藤直実
    • Organizer
      第53回日本先天代謝異常学会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] HMG-CoA lyase deficiency in Japan : Question-based follow-up study2011

    • Author(s)
      Fukao T, Yamaguchi S, Takayanagi m, Shigematsu Y, Ishige M, Tanaka T, Takahashi T, Ihara T, Murakami J, Ohtsu Y, Onigata K, Kosaka K, Yorifuji T, Kondo N
    • Organizer
      2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Geneva, Swizerland
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断: MLPA法の確立とエクソン欠失、重複の検出2011

    • Author(s)
      深尾敏幸,堀友博,近藤直実
    • Organizer
      第53回日本先天代謝異常学会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 急性胃腸炎を契機に発見されたSCOT(サクシニルーCOA:3-ケト酸CoAトランスフェラーゼ)欠損症の1例2011

    • Author(s)
      岡和田祥子, 加藤寛幸, 勝又元, 古田千左子, 関根裕司, 山内豊浩, 深尾敏幸
    • Organizer
      第53回日本先天代謝異常学会
    • Place of Presentation
      幕張
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Clinical and molecular studies of five patients with succinyl-CoA : 3-ketoacid CoA transferase deficiency. 2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism.2010

    • Author(s)
      Fukao T, Sass, JO, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot M-T, Kondo N.
    • Organizer
      2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Istanbul, Turkey
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Clinical and laboratory features of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Viet Nam2010

    • Author(s)
      Nguyen Thi Hoan, Nguyen Ngoc Khanh, Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Khu Khanh Dung, Seiji Yamaguchi, Toshiyuki Fukao, Nguyen Thanh Liem.\
    • Organizer
      The 1st Asian Congress for Inhetited Metabolic Diseases.
    • Place of Presentation
      Fukuoka
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ(SCOT)欠損症5症例の検討2010

    • Author(s)
      深尾敏幸、堀友博、近藤直実
    • Organizer
      第52回日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 間欠的嘔吐、不機嫌で発症した男児遅発性OTC欠損症の1例2010

    • Author(s)
      堀友博、深尾敏幸、深澤佳絵、寺澤大祐、近藤直実
    • Organizer
      第52回日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 「先天性ケトン体代謝異常症の発症形態と患者数の把握、診断指針に関する研究」先天性ケトン体代謝異常症(T2欠損症、SCOT欠損症)の診断指針.日本での診断された症例の検討から2010

    • Author(s)
      深尾敏幸、山口清次、重松陽介、高柳正樹、新宅治夫、堀川玲子
    • Organizer
      第52回日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Clinical and laboratory features of mitochondrial acetoacetyl-CoA thiolase(T2) deficiency in Viet Nam2010

    • Author(s)
      Nguyen Thi Hoan, Nguyen Ngoc Khanh, Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Khu Khanh Dung, Seiji Yamaguchi, Toshiyuki Fukao, Nguyen Thanh Liem
    • Organizer
      The 1st Asian Congress for Inhetited Metabolic Diseases
    • Place of Presentation
      Fukuoka, Japan
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Subtle abnormality in urinary organic acid and blood acylcarnitine profiles may result in misdiagnosis of beta-ketothiolase(T2) deficiency with mild mutations2010

    • Author(s)
      Fukao T, Maruyama S, Ohura T, Toyoshima M, Mushimoto Y, Kobayashi H, Hasegawa Y, Yamaguchi S, Kondo N
    • Organizer
      2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Istanbul, Turkey
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] A common mutation R208X identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase(T2) deficiency2010

    • Author(s)
      Toshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, Ngoc Thi Bich Can, Dung Chi Vu, Anh Thi Van Pham, Khanh Ngoc Nguyen, Hironori Kobayashi, Yuki Hasegawa, Thao Phuong Bui, Liem Thanh Nguyen, Seiji Yamaguchi, Naomi Kondo
    • Organizer
      The 1st Asian Congress for Inhetited Metabolic Diseases
    • Place of Presentation
      Fukuoka, Japan
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Subtle abnormality in urinary organic acid and blood acylcarnitine profiles may result in misdiagnosis of beta-ketothiolase (T2) deficiency with mild mutations.2010

    • Author(s)
      Fukao T, Maruyama S, Ohura T, Toyoshima M, Mushimoto Y, Kobayashi H, Hasegawa Y, Yamaguchi S, Kondo N.
    • Organizer
      2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Istanbul, Turkey
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] A common mutation R208X identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.2010

    • Author(s)
      Toshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, Ngoc Thi Bich Can, Dung ChiVu, Anh Thi Van Pham, Khanh Ngoc Nguyen, Hironori Kobayashi, Yuki Hasegawa, Thao Phuong Bui, Liem Thanh Nguyen, Seiji Yamaguchi, Naomi Kondo.
    • Organizer
      The 1st Asian Congress for Inhetited Metabolic Diseases.
    • Place of Presentation
      Fukuoka
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 「先天性ケトン体代謝異常症の発症形態と患者数の把握、診断指針に関する研究」班先天性ケトン体代謝異常症(T2欠損症、SCOT欠損症)の診断指針-日本での診断された症例の検討から2010

    • Author(s)
      深尾敏幸、山口清次、重松陽介、高柳正樹、新宅治夫、堀川玲子
    • Organizer
      第52回日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 問欠的嘔吐、不機嫌で発症した男児遅発性OTC欠損症の1例2010

    • Author(s)
      堀友博、深尾敏幸、深澤佳絵、寺澤大祐、近藤直実:
    • Organizer
      第52回日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Clinical and molecular studies of five patients with succinyl-CoA : 3-ketoacid CoA transferase deficiency2010

    • Author(s)
      Fukao T, Sass, JO, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot M-T, Kondo N
    • Organizer
      2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Istanbul, Turkey
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] サクシニル-CoA : 3-ケト酸CoAトランスフェラーゼ(SCOT)欠損症5症例の検討2010

    • Author(s)
      深尾敏幸、堀友博、近藤直実
    • Organizer
      第52回日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] An exonic splicing mutation identified in a beta-ketothiolase-deficient patient.2009

    • Author(s)
      Fukao T, Naiki Y, Tanaka, Kondo N.
    • Organizer
      11th International Congress of Inborn Errors of Metabolism
    • Place of Presentation
      SanDiego, USA
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency.2009

    • Author(s)
      Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Fukuda S, Yamaguchi S.
    • Organizer
      11th International Congress of Inborn Errors of Metabolism
    • Place of Presentation
      SanDiego, USA
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 同時に蓍しいケトアシドーシス発作を来した3歳の双生児例(T2遺伝子H144Pホモ接合体例).2009

    • Author(s)
      丸山慎介, 豊島光雄, 鍬田直美, 深尾敏幸, 堀川玲子, 内木康博, 田中藤樹, 近藤直実,
    • Organizer
      第51回日本先天代謝異常学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] エクソン内1塩基置換により, Exonic splicing Enhancer配列に影響し,エクソンスキップを来したミトコンドリアアセトアセチル-CoAチオラーゼ(T2)の1症例2009

    • Author(s)
      深尾敏幸,近藤直実,内木康博,堀川玲子,田中藤樹
    • Organizer
      第54回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] β-ケトチオラーゼ欠損症の分子病態:Exonic splicing enhancer変異の解析.2009

    • Author(s)
      深尾敏幸, 堀川玲子, 内木康博, 田中藤樹, 近藤直実
    • Organizer
      第51回日本先天代謝異常学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] An exonic splicing mutation identified in a beta-ketothiolase-deficient patient2009

    • Author(s)
      Fukao T, Naiki Y, Tanaka, Kondo N
    • Organizer
      11th International Congress of Inborn Errors of Metabolism
    • Place of Presentation
      SanDiego, USA
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] β-ケトチオラーゼ欠損症の分子病態: Exonic splicing enhancer変異の解析2009

    • Author(s)
      深尾敏幸,堀川玲子,内木康博,田中藤樹,近藤直実
    • Organizer
      第51回日本先天代謝異常学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] The Time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation to a CPT2-deficient patient.2009

    • Author(s)
      Fukao T, Hori T, Teramoto T, Kobayashi H, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N.
    • Organizer
      11th International Congress of Inborn Errors of Metabolism
    • Place of Presentation
      SanDiego, USA
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] エクソン内1塩基置換により,Exonic splicing Enhancer配列に影響し, エクソンスキップを来したミトコンドリアアセトアセチル-CoAチオラーゼ(T2)の1症例.2009

    • Author(s)
      深尾敏幸, 近藤直実, 内木康博, 堀川玲子, 田中藤樹.
    • Organizer
      第54回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591317
  • [Presentation] 遺伝子診断におけるcDNA解析の有用性の確認:T2欠損症を例にして.2007

    • Author(s)
      深尾敏幸
    • Organizer
      第110回日本小児科学会学術集会
    • Place of Presentation
      京都
    • Year and Date
      2007-04-20
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Presentation] R268H mutation in succinyl-CoA: 3-ketoacid CoA transferase(SCOT)gene is a temperature-sensitive"mild"mutation.2007

    • Author(s)
      Fukao T, et. al.
    • Organizer
      2007 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Hamburg, Germany
    • Year and Date
      2007-09-05
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Presentation] Identification of an Mu-mediated Tan dem Duplication of Exons 8 and 9 in a Patient with Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency2007

    • Author(s)
      Fukao, T., et. al.
    • Organizer
      2007 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Ha mburg, Germany
    • Year and Date
      2007-09-05
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Presentation] IgA欠損症の病態と病因遺伝子の解析.2007

    • Author(s)
      金子英雄, 鈴木啓子, 金 栄, 川本典生, 深尾敏幸, 松井永子, 青木美奈子, 新井隆広, 名田匡利, 近藤直実
    • Organizer
      日本小児科学会学術集会(第110回)
    • Place of Presentation
      京都
    • Year and Date
      2007-04-21
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Presentation] R268H mutation in succinyl-CoA: 3-ketoacid CoA transferase(SCOT)gene is a temperature-sensitive "mild" mutation.2007

    • Author(s)
      Fukao T, et. al.
    • Organizer
      2007 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Hamburg, Germany
    • Year and Date
      2007-09-05
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Presentation] Analysis of the causative genes for IgA deficiency2007

    • Author(s)
      Kaneko, H., Suzuki, H., Hong, J., Kawamoto, N., Fukao, T., Matsui, E., Aoki, M., Arai, T., Nada, M., Kondo, N
    • Organizer
      The 110th annual meeting of the Japan Pediatric Society
    • Place of Presentation
      Kyoto
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591188
  • [Presentation] Identification of an Alu-mediated Tandem Duplication of Exons 8 and 9 in a Patient with Mitochondrial Acetoacetyl-CoA Thiolase(T2)Deficiency.2007

    • Author(s)
      Fukao T, et. al.
    • Organizer
      2007 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
    • Place of Presentation
      Hamburg, Germany
    • Year and Date
      2007-09-05
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Presentation] R268H mutation in succinyl-CoA : 3-keto acid CoA transferase (SCOT) gene is a temperature-s ensitive "mild" mutation2007

    • Author(s)
      Fukao, T., et. al.
    • Organizer
      2007 Annual symposium of Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Hamburg, Germany
    • Year and Date
      2007-09-05
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591148
  • [Presentation] HMG-CoAリアーゼ(HMGCL)遺伝子のMLPA法確立とHMGCL欠損症1症例における Uniparental disomyの同定

    • Author(s)
      青山友佳,山本俊至,坂口直美,石毛美夏,田中藤樹,市原朋子,大原克明,深尾敏幸
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Three patients with HSD10 disease in Japan.

    • Author(s)
      Fukao T, Sasai H, Aoyama Y,Akiba K, Goto M, Hasegawa Y, Kobayashi M, Ida H, Akagawa S, Hori T,Hasegawa Y, Yamaguchi S, Shigematsu Y.
    • Organizer
      4th Asian Congress for Inherited Metabolic Disease 2015
    • Place of Presentation
      Taipei(Taiwan)
    • Year and Date
      2015-03-20 – 2015-03-21
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] ミトコンドリアHMG-CoA合成酵素欠損症の急性期症状

    • Author(s)
      伊藤哲哉 中島葉子 加藤沙耶香 深尾敏幸
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] 本邦初の乳児期発症のHSD10病症例

    • Author(s)
      小林正久,深尾敏幸,重松陽介,長谷川有紀,村山圭,井田博幸
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] ACAT1遺伝子のイントロン9へのAlu挿入はエクソン10の認識に影響を与える。

    • Author(s)
      深尾敏幸、堀友博、笹井英雄、大塚博樹、青山友佳
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Alu elements insertions into intron 9 affect exon 10 recognition with a suboptimal splice acceptor site in human ACAT1 gene.

    • Author(s)
      Fukao T, Hori T, Sasai H, Ohtsuka H, Kimura T, Aoyama Y
    • Organizer
      Annual symposium of the society for the study of inborn errors of metabolism
    • Place of Presentation
      Innsbruck (Austria)
    • Year and Date
      2014-09-02 – 2014-09-05
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] Clinical Importance of ketone body metabolism and its defects.

    • Author(s)
      Fukao T
    • Organizer
      International Conference on Inborn Errors of Metabolism and 3rd National Conference of ISIEM
    • Place of Presentation
      Hyderabad (India)
    • Year and Date
      2014-09-19 – 2014-09-21
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] Alu elements insertions into intron 9 affect exon 10 recognition with a suboptimal splice acceptor site in human ACAT1 gene.

    • Author(s)
      Fukao T, Hori T, Sasai H, Ohtsuka H, Kimura T, Aoyama Y
    • Organizer
      Annual symposium of the society for the study of inborn errors of metabolism
    • Place of Presentation
      Innsbruck(Austria)
    • Year and Date
      2014-09-02 – 2014-09-05
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] HMG-CoAリアーゼ(HMGCL)遺伝子のMLPA法確立とHMGCL欠損症1症例における Uniparental disomyの同定

    • Author(s)
      青山友佳,山本俊至,坂口直美,石毛美夏,田中藤樹,市原朋子,大原克明,深尾敏幸
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] HMG-CoAリアーゼ欠損症においてMLPA法を用いた1症例におけるUniparental disomyの同定

    • Author(s)
      青山友佳、市原朋子、山本俊至,大原克明,深尾敏幸
    • Organizer
      日本マススクリーニング学会
    • Place of Presentation
      広島
    • Year and Date
      2014-08-22 – 2014-08-23
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] ACAT1遺伝子のイントロン9へのAlu挿入はエクソン10の認識に影響を与える

    • Author(s)
      深尾敏幸、堀友博、笹井英雄、大塚博樹、青山友佳
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PUBLICLY-26114708
  • [Presentation] 日本初のHSD10病(2-メチル-3-ヒドロキシブチリル-CoA脱水素酵素)欠損症の報告The first case of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HS D10 disease) in Japan

    • Author(s)
      深尾敏幸、 秋葉和壽、桑山信希、森田実喜子、青山友佳、後藤正博、ヴェンカテサン ラジャラン、ビエレンガ リカート、臼田信光、森山陽介、重松陽介、長谷川有紀、大竹明、堀友博、長谷川行洋
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-25504016
  • [Presentation] ケトン性低血糖発作を契機に診断したHSD10病の4歳男児

    • Author(s)
      赤川翔平、保坂泰介、石井紘介、寺口正之、村上貴孝、圀府寺美、木野稔、 深尾敏幸、青山友佳、重松陽介
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-11-12 – 2014-11-15
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] Clinical Importance of ketone body metabolism and its defects.

    • Author(s)
      Fukao T
    • Organizer
      International Conference on Inborn Errors of Metabolism and 3rd National Conference of ISIEM
    • Place of Presentation
      Hyderabad (India)
    • Year and Date
      2014-09-19 – 2014-09-21
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591505
  • [Presentation] The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) without intellectual disability.

    • Author(s)
      Akiba K, Fukao T, Goto M, kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake T, Hasegawa Y, Shigematsu Y, Hasegawa Y
    • Organizer
      Annual symposium of the society for the study of inborn erroros of metabolism
    • Place of Presentation
      Innsbruck (Austria)
    • Year and Date
      2014-09-02 – 2014-09-05
    • Data Source
      KAKENHI-PROJECT-24591505
  • 1.  YAMAGUCHI Seiji (60144044)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 5 results
  • 2.  KANEKO Hideo (80293554)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 36 results
  • 3.  SIMOZAWA Nobuyuki (00240797)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 4.  ORII Tadao (20045339)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 5.  SUKEGAWA Kazuko (60115409)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 6.  SUZUKI Yasuyuki (00163014)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 7.  TOMATSU Shunji (70237105)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 8.  KIMURA Masahiko (00263533)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 9.  INOUE Ryosuke (60273132)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  TERAMOTO Takahide (60324307)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 11.  HASEGAWA Yuki (00362921)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 12.  USUDA Nobuteru (30135123)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 13.  FUKASAWA Motoaki (70387728)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 14.  MORIYAMA Yohsuke (00452532)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 15.  ATSUZAWA Kimie (60387727)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  HASHIMOTO Takashi (80009935)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  TANAKA Masashi (60155166)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  SHIMOMURA Atsushi (50340237)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  SASAI Hideo
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 13 results
  • 20.  AGO Yasuhiko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
  • 21.  OTSUKA Hiroki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 10 results
  • 22.  MATSUMOTO Hideki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 23.  MAKAMA Mina
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 24.  青山 友佳
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 9 results
  • 25.  PUREVSUREN Jamiyan
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results

URL: 

Are you sure that you want to link your ORCID iD to your KAKEN Researcher profile?
* This action can be performed only by the researcher himself/herself who is listed on the KAKEN Researcher’s page. Are you sure that this KAKEN Researcher’s page is your page?

この研究者とORCID iDの連携を行いますか?
※ この処理は、研究者本人だけが実行できます。

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi