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OHURA Toshihiro  大浦 敏博

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Researcher Number 10176828
External Links
Affiliation (based on the past Project Information) *help 2015: 東北大学, 医学系研究科, 非常勤講師
2013 – 2015: 東北大学, 医学(系)研究科(研究院), 非常勤講師
2010: 東北大学, 医学系・研究科, 准教授
2010: 東北大学, 大学院・医学系研究科, 非常勤講師
2007: Tohoku University, Department of Pediatrics, Tohoku University School of Medicine, Associate Professor … More
2006: Tohoku University, Graduate School of Medicine, Associate professor, 大学院医学系研究科, 助教授
1999 – 2005: Pediatrics, Tohoku University Associate professor, 大学院・医学系研究科, 助教授
2000: 東北大学, 大学院・医学研究科, 助教授
1998: Department of Pediatrics, School of Medicine, Tohoku University Associate Professor, 医学部, 助教授
1995 – 1997: TOHOKU UNIVERSITY,SCHOOL OF MEDICINE,DEPARTMENT OF PEDIATRICS,ASSISTANT PROFESSOR, 医学部, 講師
1994: 東北大学, 医学部附属病院, 講師
1993: TOHOKU UNIVERSITY HOSPITAL, DEPARTMENT OF PEDIATRICS, ASSISTANT PROFESSOR, 医学部・附属病院, 講師
1993: Tohoku Univ., Dept. of Pediatrics, School of Medicine, Assistant Professor, 医学部・附属病院・小児科, 講師
1992: 東北大学, 医学部附属病院, 講師
1990: 東北大学, 医学部附属病院, 助手
1989 – 1990: 東北大学, 医学部・附属病院, 助手
1988: 東北大学, 医学部附属病院, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Pediatrics
Except Principal Investigator
Pediatrics / Pediatrics / Biological Sciences / Kidney internal medicine / Hygiene / Human genetics
Keywords
Principal Investigator
GLUT2 / SLC25A13 / NICCD / 腎性糖尿 / プロピオン酸血症 / プロピオニルCoAカルボキシラーゼ / Propionic Acidemia / ファンコニ・ビッケル症候群 / ドミナントネガテイブ効果 / トランスジェニックマウス … More / Cre loxP system / ファンコニービッケル症候群 / Fanconi-Bickel syndrome / Transgenic mice / シトリン / シトルリン血症 / 新生児スクリーニング / 新生児肝内胆汁うっ滞 / citrin / citrullinemia / Newborn screening / neonatal intrahepatic cholestasis / SGLT2 / 培養尿細管細胞 / エクソンスキッピング / Propionyl CoA Ccrboxylase / Exon skipping / シャペロニン / Propionic acdemia / Propiony1 CoA Carboxylase / Chaperonine / スプライス異常 / Propionyl-CoA carboxylase / 糖原病XI型 / Glycogen storage disease type XI / dominant negative effects / Renal glucosuria / Cre-loxPシステム / GLUT2(Facililative glucose transporter 2) / ドミナントネガティブ効果 / ワァンコニ・ビッケル症候群 / GLUT2 (Facilitative glucose transporter 2) / dominant-Negative effects / Cre-loxP system / renal glucisuria / シトリン欠損症 / ガラクトース血症 / CTLN2 / 低炭水化物食 … More
Except Principal Investigator
高グリシン血症 / 遺伝子変異 / LPI / hyperglycinemia / てんかん / イオンチャンネル / 移植・再生医療 / 細胞・組織 / アミノ酸代謝異常症 / 先天代謝異常 / グリシン開裂酵素 / 出生前診断 / 非ケト-シス型高グリシン血症 / Nonketotic Hyperglycinemia / Glycine Cleavage System / Alu repeats / deletion / glycine decarboxylase / Osler-Rendu-Weber / SLC7A7 / 遺伝疫学 / 遺伝性疾患 / 創始者変異 / マススクリーニング / gene mutation / NICCD / グリシン脳症 / GLDC / AMT / GCSH / 大脳皮質形成障害 / スライスパッチクランプ / 大脳皮質形成異常 / パッチクランプ法 / 接着因子 / 免疫組織化学 / 大家系 / リンケージ解析 / 候補遺伝子 / 多型マーカー / 難聴 / 病因遺伝子 / 家系解析 / 欠失変異 / 不完全浸透 / ハプロタイプ解析 / エリスロポイエチン / 酸素濃度 / 尿中落下細胞培養系 / 微小単離尿細管灌流 / 近位尿細管 / 生理学 / タンパク質 / 発生・分化 / 微小単離尿細管灌流法 / 嚢胞腎 / 経上皮電位 / アポトーシス / 中心繊毛 / 管腔内圧 / ヘンレの太い上行脚 / 皮質部集合管 / ARPKD / PCKラット / 徴小単離尿細管灌流 / 抗利尿ホルモン / ヘンレループ / 慢性腎不全 / 腎尿細管 / 医療・福祉 / 解剖学 / 病理学 / 腎嚢胞 / イオン輸送 / 絨毛 / 小児末期腎不全 / 利尿薬 / 多嚢胞腎 / 集合管 / 小児代謝 / 栄養学 / 先天代謝異常症のin vivo診断法 / 安定同位体 / 呼気試験 / 13C / 酵素活性測定 / 酵素 / 遺伝子 / 分析化学 / 安定同位元素 / 分岐鎖アミノ酸・ / 自閉症 / 新生児マススクリーニング / 分岐鎖アミノ酸 / DNA診断 / 非ケト-シス型高グリジン血症 / DNA Diagnosis / Prenatal diagnosis / glyicme decarboxylase / non-ketotic hyperglycimemia / homalogaus recombination / Nonketotic hyperglycinemia / Homologous recombination / ghycime decarboxylase / nonkefotic hyperglycimemia / homologous recommbination / non-ketotic hyperglycinemia / homologous recombination / 突然変異 / 輸送蛋白 / SL7A7 / P410X / 多のう胞 / プロインスリン / Osler-Rendu-wever / ベータ細胞 / トランスポーター / OCTN2 / 心肥大 / Hartnup / 加齢 / mutations / transporters / R410X / polycystic / proinsulin / 遺伝病 / 雑交配 / 遺伝的ドリフト / ボトルネック現象 / 劣性 / 隔離 / プロテオミックス / 集団的遺伝学 / 社会的隔離 / 地理的隔離 / 糖尿病 / 構造異常 / 嚢胞性腎症 / Osler-Rendu-Weber病 / 早期診断 / 家族性甲状腺腫 / epidemiological genetic / diseases genetic / nonrandom mating / genetic drifts / bottle neck / recessive / isolation / proteomics / グリシン開裂酵素系 / 中枢神経障害 / GCSH遺伝子 / 一過性高グリシン血症 / スプライス異常 / グリシン開裂素系 / グリシン脱炭酸素遺伝子 / 遺伝子多型マーカー / イスラエル / 大家族 / 常染色体劣性遺伝 / 染色体マッピング / glycine cleavage system / disturbances in central nervous system / GCSH gene / transient hyperglycinemia / splicing error / シトルリン血症 / シトリン / 新生児肝炎 / 胆汁うっ滞 / Ctrullinemia / citrin / neonatal hepatitis / cholestasis / 尿濃縮機構 / イオン輸送体 / カルシウム代謝 / 尿細管機能異常症 / 微笑灌流法 / 顕微蛍光測光法 / 微小灌流法 / urine concentrating mechanism / ion transporters / calcium metabolism / renal tubular dysfunction / microperfusion / microfluorometry / NMD型Aグルタミン酸受容体 / モデルマウス / 抑制性グリシン受容体 / 行動異常 / 易けいれん性 / 多動 / 攻撃性亢進 / NMDA受容体 / NMDA glutamate receptor / model mice / inhibitory glycine receptor / abnormal behavior / seizure sencitivity / hyperactivity / increased aggresiveness / 高グルシン血症 / 新生児けいれん / 髄液 / 遺伝子解析 / 変異スペクトラム / 髓液 / neonatal seizures / cerebrospinal fluids / gene analysis / mutation spectrum / 非ケ-トシス型高グリシン血症 / 遺伝子診断 / グリシン開裂反応 / グリシン代謝 / Prenatal Diagnosis Less
  • Research Projects

    (26 results)
  • Research Products

    (35 results)
  • Co-Researchers

    (28 People)
  •  Platform for conformation and screening of BCKDK deficiency; potentially treatable form of autism with epilepsy

    • Principal Investigator
      Sakamoto Osamu
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Evaluation system of residual enzymatic activity by 13C-breath test, which improves treatment of patients with inborn error of metabolism

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Molecular physiological analyses of renal failure in pediatric cystic renal diseases

    • Principal Investigator
      KONDO Yoshiaki
    • Project Period (FY)
      2007 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Nihon University
      Tohoku University
  •  エリスロポイエチン産生機構の尿中酸素濃度感受性仮説の検証

    • Principal Investigator
      根東 義明
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Kidney internal medicine
    • Research Institution
      Tohoku University
  •  Strategy for prevention of development of CTLN2 in patients with citrin deficiencyPrincipal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Comprehensive mutational screening of genes maintaining the glycine concentrations in the central nervous system

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  難聴遺伝子領域DFNA2に存在する新規病因遺伝子の同定の機能解析

    • Principal Investigator
      呉 繁夫
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tohoku University
  •  Clinical manifestations of infants with neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD)Principal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  染色体1q34領域にマップされた新規難聴責任遺伝子の同定と機能解析

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2003
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tohoku University
  •  Developmental analyses of Ca transporters and Ca sensing receptors in the kidneys

    • Principal Investigator
      KONDO Yoshiaki
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Kidney internal medicine
    • Research Institution
      Tohoku University
  •  COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGLE GENE DISORDERS

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Functional knockout of the glucose transporter 2 in mice overexpressing a dominant negative mutationPrincipal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Identification of a novel gene responsible for hyperglycinemia

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Adult onset citrullinemia type II : Clinical features in infancy

    • Principal Investigator
      NAGATA Ikuo
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOTTORI UNIVERSITY
  •  Impact of mutations and polymorphisms in transporter families on population health

    • Principal Investigator
      KOIZUMI Akio
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Hygiene
    • Research Institution
      KYOTO UNIVERSITY
  •  Extended linkage disequilibrium mapping based on a founder effect attributable to historical and genetic isolation

    • Principal Investigator
      KOIZUMI Akio
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Hygiene
    • Research Institution
      KYOTO UNIVERSITY
  •  Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndromePrincipal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  ヒト大脳皮質異形成のてんかん源性獲得に関する組織学的、生理学的研究

    • Principal Investigator
      萩野谷 和裕
    • Project Period (FY)
      1999
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  摘出組織を用いた大脳皮質形成障害のてんかん源性の解明

    • Principal Investigator
      萩野 和裕
    • Project Period (FY)
      1998
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Recurrent deletion in glycine decarboxylase gene and nonketotic hyperglycinemia Medical genetics, Research

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Propionic Acidemia : Mutation Analysis of the alpha-subunit of Propionyl-CoA Carboxylase.Principal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  腎性糖尿の分子遺伝学的解析Principal Investigator

    • Principal Investigator
      大浦 敏博
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Propionic acidemia : bacterial expression system for propionyl CoA carboxylase.Principal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Propionic acidemia : Molecular analysis of beta subnit deficient Japanese petientsPrincipal Investigator

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  DNA Diagnosis of Non-ketotic Hyperglycinemia

    • Principal Investigator
      TADA Keiya
    • Project Period (FY)
      1991 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Elucidation of Pathogenesis of Hyperglycinemia

    • Principal Investigator
      TADA Keiya
    • Project Period (FY)
      1987 – 1990
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University

All 2015 2014 2008 2007 2006 2005 2004

All Journal Article Presentation

  • [Journal Article] シトリン欠損による新生児肝内うっ滞症(Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency, NICCD)の診断と治療2015

    • Author(s)
      大浦敏博、坂本修
    • Journal Title

      日本マススクリーニング学会誌

      Volume: 25 Pages: 11-15

    • Data Source
      KAKENHI-PROJECT-25461532
  • [Journal Article] Successful treatment of cardiac failure due to cardiomyopathy in propionic acidemia by cardiac resynchronization therapy and hemodialysis in a young adult.2014

    • Author(s)
      Kimura M, Wakayama Y, Sakamoto O, Kawano K, Ohura T, Kure S.
    • Journal Title

      Open Journal of Pediatrics

      Volume: 4 Pages: 79-83

    • DOI

      10.4236/ojped.2014.41011

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25461532
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects2008

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

      Journal of Inherited Metabolic Disease 31(in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects.2008

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

      J Inher Metab Dis 31(In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] シトリン欠損による新生児肝内胆汁うっ滞症(NICCD)の発見まで2008

    • Author(s)
      大浦敏博
    • Journal Title

      小児内科 40

      Pages: 139-143

    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects2008

    • Author(s)
      T. Saheki, K. Kobayashi, M. Terashi, T. Ohura et. al.
    • Journal Title

      J Inher Metab Dis

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Novel diagnostic approach to citrin deficiency : Analysis of citrin protein in lymphocytes.2007

    • Author(s)
      Tokuhara D., Ohura T., Okano Y.et al.
    • Journal Title

      Mol.Genet. Metab. 90

      Pages: 30-36

    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] NICCD-シトリン欠損による新生児肝内胆汁うっ滞症-2007

    • Author(s)
      坂本修、大浦敏博
    • Journal Title

      周産期医学 37

      Pages: 1346-1349

    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes2007

    • Author(s)
      Tokuhara D, Iijima M, Tamamori A, Ohura T et. al.
    • Journal Title

      Mol Genet Metab 90

      Pages: 30-36

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).2007

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

      J Inher Metab Dis 30

      Pages: 139-144

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes.2007

    • Author(s)
      Tokuhara D, Ohura T , et. al.
    • Journal Title

      Mol Genet Metab 90

      Pages: 30-36

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)2007

    • Author(s)
      Ohura T. Kobayashi K, Tazawa Y, Abukawa D et. al.
    • Journal Title

      J Inher Metab Dis 30

      Pages: 139-144

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).2007

    • Author(s)
      Ohura T, Kobayashi K., Tazawa Y. et al.
    • Journal Title

      J Inher Metab Dis 30(In press)

    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] シトリン欠損による新生児肝内胆汁うっ滞症(NICCD)-臨床像の検討2006

    • Author(s)
      大浦敏博
    • Journal Title

      日本小児科学会雑誌 110

      Pages: 2057-61

    • NAID

      10024461704

    • Data Source
      KAKENHI-PROJECT-18591138
  • [Journal Article] A Possible Mechanism of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency.2005

    • Author(s)
      Yusaku Tazawa, Toshihiro Ohura et al.
    • Journal Title

      Hepatol.Res. 3

      Pages: 168-171

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] A Possible Mechanism of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency.2005

    • Author(s)
      Tazawa Y, Ohura T et al.
    • Journal Title

      Hepatol. Res. 31

      Pages: 168-171

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.2005

    • Author(s)
      Hachisu M, Ohura T et al.
    • Journal Title

      Eur J Pediatr 164

      Pages: 109-110

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] A Possible Mechanism of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency.2005

    • Author(s)
      Tazawa Y, Ohura T et al.
    • Journal Title

      Hepatol.Res. 31

      Pages: 168-171

    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.2005

    • Author(s)
      Momoko Hachisu, Toshihiro Ohura et al.
    • Journal Title

      Eur J Pediatr 164

      Pages: 109-110

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency : case reports from 16 patients.2004

    • Author(s)
      Tazawa Y, Ohura T et al.
    • Journal Title

      Molecular Genetics & Metabolism 83

      Pages: 213-219

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] マス・スクリーニング対象外疾患の発見-シトリン欠損症について-臨床的知見2004

    • Author(s)
      大浦敏博
    • Journal Title

      小児内科 36巻12号

      Pages: 1923-1927

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Screening for Citrin deficiency2004

    • Author(s)
      Toshihiro Ohura, Yoshiyuki Okano
    • Journal Title

      Pediatrics of Japan 45

      Pages: 2014-2019

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Effects of Citrin Deficiency in the Perinatal Period : Feasibility of Newborn Mass Screening for Citrin Deficiency.2004

    • Author(s)
      Tamamori A, Ohura T et al.
    • Journal Title

      Pediatric Research 56

      Pages: 608-614

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency : case reports from 16 patients.2004

    • Author(s)
      Yusaku Tazawa, Toshihiro Ohura et al.
    • Journal Title

      Mol Genet Metab 83

      Pages: 213-219

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] シトリン欠損症スクリーニング2004

    • Author(s)
      大浦敏博, 岡野善行
    • Journal Title

      小児科 45巻11号

      Pages: 2014-2019

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Citrin deficiency-Clinical aspect2004

    • Author(s)
      Toshihiro Ohura
    • Journal Title

      Jpn J Pediatr Med 36

      Pages: 1923-1927

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] マス・スクリーニング対象外疾患の発見-シトリン欠損症について-臨床的知見2004

    • Author(s)
      大浦敏博
    • Journal Title

      小児内科 36巻、12号

      Pages: 1923-1292

    • Data Source
      KAKENHI-PROJECT-16591005
  • [Journal Article] Effects of Citrin Deficiency in the Perinatal Period : Feasibility of Newborn Mass Screening for Citrin Deficiency.2004

    • Author(s)
      Tamamori A, Ohura T et al.
    • Journal Title

      Pediatr Res. 56

      Pages: 608-614

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591005
  • [Presentation] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)2007

    • Author(s)
      Ohura T
    • Organizer
      International symposium for citrin deficiency.
    • Place of Presentation
      海南島,中国
    • Year and Date
      2007-08-28
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Presentation] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)2007

    • Author(s)
      Ohura T
    • Organizer
      International symposium for citrin deficiency
    • Place of Presentation
      Haikou, China
    • Year and Date
      2007-08-28
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Presentation] CLINICAL PICTURES OF 75 PATIENTS WITH NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY (NICCD)2007

    • Author(s)
      Ohura T. et. al
    • Organizer
      シトリン欠損症国際シンポジウム
    • Place of Presentation
      中国、海南島
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Presentation] シトリン欠損による新生児肝内胆汁うっ滞症(NICCD)2007

    • Author(s)
      大浦敏博
    • Organizer
      第34回日本小児栄養消化器肝臓学会
    • Place of Presentation
      仙台
    • Year and Date
      2007-10-07
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Presentation] Neonatal intrahepatic cholestasis caused by citrin deficiency2007

    • Author(s)
      Ohura T
    • Organizer
      Annual meeting for Japanese Society for Pediatric Gastroenterology, Hepatology and Nutrition
    • Place of Presentation
      Sendai
    • Year and Date
      2007-10-07
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Presentation] 新生児マススクリーニングを契機に発見されるシトリン欠損による新生児肝内胆汁うっ滞症2006

    • Author(s)
      大浦敏博
    • Organizer
      第109回日本小児科学会学術集会、シンポジウム
    • Place of Presentation
      金沢
    • Year and Date
      2006-04-22
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • [Presentation] A novel inborn error of metabolism detected by newborn screening: neonatal intrahepatic cholestasis caused by citrin deficienty (NICCD)2006

    • Author(s)
      Ohura T
    • Organizer
      Annual meeting of Japan Pediatric Society
    • Place of Presentation
      Kanazawa
    • Year and Date
      2006-04-22
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591138
  • 1.  KURE Shigeo (10205221)
    # of Collaborated Projects: 15 results
    # of Collaborated Products: 0 results
  • 2.  KONDO Yoshiaki (00221250)
    # of Collaborated Projects: 7 results
    # of Collaborated Products: 0 results
  • 3.  MUNAKATA Mitsutoshi (30312573)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 0 results
  • 4.  FUJIWARA Ikuma (10271909)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 0 results
  • 5.  UCHIDA Shinichi (50262184)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 6.  Sakamoto Osamu (20333809)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 3 results
  • 7.  KURE Shigeo (70211191)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 8.  萩野 和裕 (00208414)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 9.  TADA Keiya (20046907)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 10.  KOIZUMI Akio (50124574)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 11.  YOSHINAGA Takeo (30025663)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 12.  KOBAYASHI Keiko (70108869)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 13.  山田 祐一郎 (60283610)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 14.  和田 安彦 (10261653)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 15.  UEMATSU Mitsugu (90400316)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  NAGATA Ikuo (50252846)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  IITSUKA Tohiyuki (70271046)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  IINUMA Kazuie (80004927)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  MATSUBARA Mitsunobu (30282073)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  SUZUKI Youichi (80216457)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  YAMAGUCHI Seiji (60144044)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  塩谷 隆信 (90170852)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  石沢 志信 (60158748)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  KIKUCHI Masahiro
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  森本 哲司
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  花水 啓
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  斉藤 治
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  菊地 正宏
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results

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