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

KOBAYASHI Keiko  小林 圭子

ORCIDConnect your ORCID iD *help
Researcher Number 70108869
Other IDs
External Links
Affiliation (based on the past Project Information) *help 2011: 鹿児島大学, 医歯学総合研究科, 准教授
2007 – 2011: Kagoshima University, 大学院・医歯学総合研究科, 准教授
2008: 鹿児島大学, 大学院医歯学総合研究科・病態医化学分野, 准教授
2007 – 2008: 鹿児島大学, 医歯学総合研究科, 准教授
2006: 鹿児島大学, 大学院医歯薬学総合研究科, 助教授 … More
2005 – 2006: 鹿児島大学, 大学院医歯学総合研究科, 助教授
2005: 鹿児島大学, 大学院・歯学総合研究科, 助教授
2003 – 2005: Kagoshima University, Graduate School of Medical and Dental Sciences, Associate Professor, 大学院・医歯学総合研究科, 助教授
2002: Kagoshima University, Faculty of Medicine, Professor, 医学部, 教授
1998 – 2002: 鹿児島大学, 医学部, 助教授
1993 – 1995: Kagoshima Univ.Faculty of Med.Associate Professor, 医学部, 助教授
1990 – 1992: 鹿児島大学, 医学部, 講師
1987 – 1988: 鹿児島大学, 医学部, 講師
1986: 鹿児島大学, 医学部, 助手
1986: 鹿大, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Human genetics / Pathological medical chemistry / Pediatrics / 代謝生物化学 / Human genetics / General medical chemistry
Except Principal Investigator
Pediatrics / Pathological medical chemistry / General medical chemistry / Pediatrics / Nerve anatomy/Neuropathology
Keywords
Principal Investigator
SLC25A13 / citrin / aspartate-glutamate carrier / NADH shuttle / シトルリン血症 / Homozygosity mapping / malate-aspartate shuttle / 成人発症II型シトルリン血症(CTLN2) / 胆汁うっ滞性新生児肝炎(NICCD) / Citrin … More / Citrullinemia / glycerophosphate shuttle / アルギニノコハク酸合成酵素 / アルギニノコハク酸合成酵素欠損症 / 尿素サイクル酵素異常症 / RFLP解析 / Argininosuccinate synthetase deficiency / Urea cycle enzyme deficiency / Tissue specific abnormality / 遺伝子診断 / Aspartate Glutamate Carrier / Malate Aspartate Shuttle / Argininosuccinate Synthetase / Argininosuccinate synthetase / てんかん / 肝小葉内酵素分布 / 窒素代謝の分担性 / グルタミン合成酵素 / 免疫組職化学 / 臓器特異的発現異常 / RFLP 解析 / in vitro発現系 / PCR / compound heterozygote / 臓器特異的異常 / RFLP analysis / 肝臓特異的異常 / スプライシング異常 / 変異解析 / シリトルン血症 / Mutation analysis / Abnormal splicing / DNA diagnosis / 成人発症II型シトルリン血症 / 新生児肝炎 / 肝内胆汁うっ滞性黄疸 / Aspartate glutamate carrier / 肝内胆汁うつ滞症 / Urea cycle / aspartate glutamate carrier / II型シトルリン血症 / 新生児肝内胆汁うっ滞症 / argininosuccinate synthetase / 高アンモニア血症 / urea cycle / Adult-onset type II citrullinemia / Neonatal Hepatitis / Hepatic Cholestatic Jaundice / adult-onset type II citrullinemia / cholestatic neonatal hepatitis / malaie-aspartate shuttle / glycerol phosphate shuttle / アンチセンスRNA / In Situ Hybridization / アルギニノコハク酸化合成酵素 / Antisense-RNA … More
Except Principal Investigator
NICCD / citrin / SLC25A13 / シトルリン血症 / シトリン / citrullinemia / aralar / aspartate glutamate carrier / シトリン欠損症 / 高アンモニア血症 / mitochondria / 尿素サイクル / Urea cycle / 分子遺伝学 / 遺伝子 / 酵素 / 肝臓 / インスリン / アンモニア / 低血糖 / グルタメイト脱水素酵素 / トランスジェニックマウス / アスパラギン酸・グルタミン酸ミトコンドリア膜輸送体 / 成人発症II型シトルリン血症(CTLN2) / アルギニン / 神経伝達物質 / 心肥大 / AP-1 / Hyperammonemia / Cardiac hypertrophy / PDK4 / Octn2 / SLC25A12 / 組織化 / チャネリング / argininosuccinate synthetase / channeling / yeast two hybrid / グルタメト脱水素酵素 / 先天代謝異常症 / モデル動物 / 病態解析 / 治療法 / ピルビン酸ナトリウム / glycerol 3-phosphate / NICCD(シトリン欠損による新生児肝内胆汁うっ滞) / 新生児肝内胆汁うっ滞症(NICCD) / マウスモデル / 糖質毒性 / メタボローム解析 / glycerol-3-phosphate / エタノール / グリセロール / glycerol3-phosphate / glycerol 3-hosphate / アルギニノコハク酸 / アルギニノコハク酸合成酵素 / アルギニノコハク酸リアーゼ / 一酸化ちっ素(NO) / 神経細胞 / アルギニノコハク酸リア-ゼ / グルタミン酸 / カルシウム / 免疫組織化学 / Argininosuccinate / Argininosuccinate synthetase / Argininosuccinate lyase / Arginine / Nitric Oxide (NO) / Nerve cells / カルニチン / differential display / 長鎖不飽和脂肪酸 / JUS(juvenile Visceral Steatosi s)マウス / c-jun / JVS(Juvenile Visceral Steatosis)マウス / jvs(juvenile visceral steatosis)マウス / グルココルチコイド / Atrial natriuretic factor / 膜輸送活性 / 遺伝子発現 / Carnitine / Long-chain unsaturated fatty acid / JVS (Juvenile Visceral Steatosis) mouse / Differential display / カルチニン欠乏 / JVSマウス / CDV-1 / CDV-3 / カルニチン欠乏 / カルニチン膜輸送体 / Carnitine deficiency / CDV (carnitine deficiency-associated genes) / Juvenile visceral steatosis (JVS) mice / Long-chain fatty acid / aspartate / glutamate carrier / Ca-dependent mitochondrial solute carrier / 新生児肝炎 / 遺伝子変異 / 胆汁うっ滞 / Ctrullinemia / neonatal hepatitis / gene mutation / cholestasis / ミトコンドリア / チトクロームC / 細胞死 / Citrin / Aspartate glutamate carrier / 成人発症II型シトルリン血症 / cytochrome c / 髄鞘形成 / ノックアウトマウス / 細胞学的構築 / 化学的構築 / グルタメイト受容体 / セロトニン作動性神経細胞 / オレキシン作動性神経細胞 / 髄鞘 / 一酸化窒素作動性神経細胞 / 黄体形成ホルモン放出ホルモン / 副腎皮質刺激ホルモン放出ホルモン / Aralar / N-acetylaspartate / calbidin D-28k / オレキシン / セロトニン / myelin basic protein / oligodendrocyte / myelin / knockout mice / cytoarchitecture / chemoarchitecture / glutamate receptor, / serotor ergic neuron / orexinergic neuron / 新生児スクリーニング / 新生児肝内胆汁うっ滞 / ガラクトース血症 / Newborn screening / neonatal intrahepatic cholestasis / spfマウス / オルニチントランスカルバミラーゼ / 尿素合成能 / シトルリン / オロト酸 / グルタミン / sparse-furマウス / 肝臓潅流法 / コンジェニックマウス / ミトルリン / Sparse-fur mice / Ornithine transcarbamylase / Urea synthesis / Glutamine / Neurotransmitter Less
  • Research Projects

    (22 results)
  • Research Products

    (206 results)
  • Co-Researchers

    (27 People)
  •  The study of mechanism and approach to treatment for the hyper-ammonemia in the glutamate dehydrogenase abnormality

    • Principal Investigator
      OKANO Yoshiyuki
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Osaka City University
  •  Toxicity of sugars and identification of markers for pathophysiology in citrin deficiency leading to development of novel therapeutics

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kumamoto University
      Tokushima Bunri University
  •  Molecular genetics of citrin deficiency and search for the genetic and/or environmental factor(s) concerned with onset of various symptomsPrincipal Investigator

    • Principal Investigator
      KOBAYASHI Keiko
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Kagoshima University
  •  The study of mechanism and treatment for the hyperammonemia in the glutamate dehydrogenase abnormality

    • Principal Investigator
      OKANO Yoshiyuki
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Osaka City University
  •  Pathophysiological analysis and development of therapeutic procedures for citrin deficiency by using a mouse model

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokushima Bunri University
  •  てんかんの病因にシトリン欠損は関与するかPrincipal Investigator

    • Principal Investigator
      小林 圭子
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Kagoshima University
  •  Molecular genetics of citrin deficiency and search for the factor(s) and mechanism of adult-onset type II citrullinemia onsetPrincipal Investigator

    • Principal Investigator
      KOBAYASHI Keiko
    • Project Period (FY)
      2004 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Kagoshima University
  •  Morphologic study on the cyto-and chemoarchitectures of the brain in the mice lacking aralar.

    • Principal Investigator
      NAKAGAWA Shiro
    • Project Period (FY)
      2004 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Nerve anatomy/Neuropathology
    • Research Institution
      Kagoshima University
  •  Clinical manifestations of infants with neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD)

    • 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
  •  Is mitochondria aberration initiated by mutated citrin correlated with cell death?

    • Principal Investigator
      LIJIMA Mikio
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      General medical chemistry
    • Research Institution
      Kagoshima 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
  •  Molecular Genetics and Pathophysiology of Adult-Onset Type II CitrullinemiaPrincipal Investigator

    • Principal Investigator
      KOBAYASHI Keiko
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      Kagoshima University
  •  Functional analysis of novel gene products, citrin and aralar

    • Principal Investigator
      IIJIMA Mikiko
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Kagoshima University
  •  尿素サイクル酵素の組織化(channeling)に関する蛋白質の発見を目指して

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      General medical chemistry
    • Research Institution
      Kagoshima University
  •  Structure and function of novel genes which differentially expressed in cardiac hypertrophy of carnitine deficiency

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      1998 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Kagoshima University
  •  Pathogenesis and pathophysiology of inherited carnitine deficiency using carnitine-deficient JVS mice

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      1993 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Kagoshima University
  •  Molecular basis of argininosuccinate synthetase deficiency in citrullinemiaPrincipal Investigator

    • Principal Investigator
      KOBAYASHI Keiko
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Kagoshima University
  •  Argininosuccinate as a possible neuromodulator and localization of its metabolizing enzymes

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      1991 – 1992
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      General medical chemistry
    • Research Institution
      Kagoshima University
  •  molecular basis of argininosuccinate synthetase deficiency in citrullinemia.Principal Investigator

    • Principal Investigator
      KOBAYASHI Keiko
    • Project Period (FY)
      1990 – 1991
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Kagoshima University
  •  Possible involvement of antisense RNA in pathogenesis of type II citrullinemia.Principal Investigator

    • Principal Investigator
      SAHEKI Takeyori, 小林 圭子
    • Project Period (FY)
      1987 – 1988
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      General medical chemistry
    • Research Institution
      Kagoshima University
  •  肝小葉内酵素分布の不均一性とその発現機序に関する研究Principal Investigator

    • Principal Investigator
      小林 圭子
    • Project Period (FY)
      1986
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      代謝生物化学
    • Research Institution
      Kagoshima University
  •  Disturbance of Nitrogen Metabolism in sparse-fur mice.

    • Principal Investigator
      SAHEKI Takeyori
    • Project Period (FY)
      1986 – 1987
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Kagoshima University

All 2012 2011 2010 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation Book Patent

  • [Book] 別冊・医学のあゆみ 消化器疾患 II.肝・胆・膵2006

    • Author(s)
      小林圭子, 佐伯武頼
    • Total Pages
      726
    • Publisher
      医歯薬出版
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] 別冊・医学のあゆみ 消化器疾患II.肝・胆・膵2006

    • Author(s)
      小林圭子, 佐伯武頼
    • Total Pages
      726
    • Publisher
      医歯薬出版
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] 小児科の新しい流れ2005

    • Author(s)
      小林圭子, 佐伯武頼
    • Total Pages
      389
    • Publisher
      先端医療技術研究所
    • Data Source
      KAKENHI-PROJECT-16659281
  • [Book] 小児科の新しい流れ(編 : 柳澤正義,衛藤義勝,五十嵐 隆)2005

    • Author(s)
      小林圭子, 佐伯武頼
    • Total Pages
      389
    • Publisher
      先端医療技術研究所
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] 小児科の新しい流れ2005

    • Author(s)
      小林圭子, 佐伯武頼
    • Total Pages
      389
    • Publisher
      先端医療技術研究所
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] GeneReviews at Gene Tests [www.genetests.org]2005

    • Author(s)
      Keiko Kobayashi et al.
    • Publisher
      Medical Genetics Information Resource, developed at the University of Washington
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] 肝疾患Review 2004(監修:小俣政男)2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Total Pages
      237
    • Publisher
      日本メディカルセンター,東京
    • Data Source
      KAKENHI-PROJECT-16659281
  • [Book] 肝疾患Review 2004 (監修 : 小俣政男)2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Total Pages
      237
    • Publisher
      日本メディカルセンター,東京
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] モデル動物の作製と維持(編集:森脇和郎, 山村研一, 米川博通)2004

    • Author(s)
      佐伯武頼, 小林圭子, 堀内正久
    • Total Pages
      956
    • Publisher
      エル・アイ・シー(Life-Science Information Center),(東京)
    • Data Source
      KAKENHI-PROJECT-16500222
  • [Book] 肝疾患Review 2004(監修:小俣政男)2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Total Pages
      237
    • Publisher
      日本メディカルセンター,東京
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] モデル動物の作製と維持(編集 : 森脇和郎、山村研一、米川博通)2004

    • Author(s)
      佐伯武頼, 小林圭子, 堀内正久
    • Total Pages
      956
    • Publisher
      エル・アイ・シー(Life-Science Information Center),東京
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Book] モデル動物の作製と維持(編集:森脇和郎, 山村研一, 米川博通)2004

    • Author(s)
      佐伯武頼, 小林圭子, 堀内正久
    • Total Pages
      956
    • Publisher
      エル・アイ・シー(Life-Science Information Center),東京
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] The characteristics of food intake in patients with type II citrullinemia. The characteristics of food intake in patients with type II citrullinemia2011

    • Author(s)
      Nakamura M, Yazaki M, Kobayashi Y, Fukushima K, Ikeda S, Kobayashi K, Saheki T, Nakaya Y
    • Journal Title

      J Nutr Sci Vitaminol(Tokyo)

      Volume: 57(3) Pages: 239-45

    • URL

      https://www.jstage.jst.go.jp/article/jnsv/57/3/57_3_239/_article

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A132011

    • Author(s)
      Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S
    • Journal Title

      Mol Genet Metab

      Volume: 105(4) Pages: 553-8

    • URL

      http://dx.doi.org/10.1016/j.ymgme

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Induction of PDK4 in the heart muscle of JVS mice, an animal model of systemic carnitine deficiency, does not appear to reduce glucose utilization by the heart.2011

    • Author(s)
      Ushikai M, Horiuchi M, Kobayashi K, Matuda S, Inui A, Takeuchi T, Saheki T.
    • Journal Title

      Mol Genet Metab

      Volume: 102 Pages: 349-355

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency2011

    • Author(s)
      Saheki T, 11名、Kobayashi K.(13番目)
    • Journal Title

      Mol Genet Metab

      Volume: 104(4) Pages: 492-500

    • URL

      http://dx.doi.org/10.1016/j.ymgme

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Genotypic and phenotypic features of citrin deficiency : Five-year experience in a Chinese pediatric center.2011

    • Author(s)
      Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, Kobayashi K, Saheki T, Wang ZN.
    • Journal Title

      Int J Mol Med.2011

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia2011

    • Author(s)
      Fu HY, Zhang SR, Wang XH, Saheki T, Kobayashi K, Wang JS
    • Journal Title

      J Gastroenterol

      Volume: 46(4) Pages: 510-8

    • DOI

      10.1007/s00535-010-0329-y

    • NAID

      10029028662

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Genotypic and phenotypic features of citrin deficiency : five-year experience in a Chinese pediatric center2011

    • Author(s)
      Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, Kobayashi K, Saheki T, Wang ZN
    • Journal Title

      Int J Mol Med

      Volume: 28(1) Pages: 33-40

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Citrin deficiency and current treatment concepts2010

    • Author(s)
      Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K
    • Journal Title

      Mol Genet Metab

      Volume: 100 Pages: 59-64

    • DOI

      10.1016/j.ymgme.2010.02.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Citrin deficiency and current treatment concepts.2010

    • Author(s)
      Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K
    • Journal Title

      Mol Genet Metab 100

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] 尿素回路障害2:citrin 欠損症(NICCD, CTLN2)2010

    • Author(s)
      小林圭子, 佐伯武頼.
    • Journal Title

      小児科診療 73(in press)

    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Low levels of citrin(SLC25A13)expression in adult mouse brain restricted to neuronal clusters2010

    • Author(s)
      Contreras L, Urbieta A, Kobayashi K, Saheki T, Satrustegui J.
    • Journal Title

      J Neurosci Res. 88

      Pages: 1009-1016

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency2010

    • Author(s)
      Fukushima K, Yazaki M, Nakamura M, Tanaka N, Kobayashi K, Saheki T, Takei H, Ikeda S
    • Journal Title

      Intern Med

      Volume: 49 Pages: 243-7

    • NAID

      130000152603

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency2010

    • Author(s)
      Fukushima K, Yazaki M, Nakamura M, Tanaka N, Kobayashi K, Saheki T, Takei H, Ikeda S.
    • Journal Title

      Intern Med. 49

      Pages: 1-20

    • NAID

      130000152603

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia.2010

    • Author(s)
      Fu HY, Zhang SR, Wang XH, Saheki T, Kobayashi K, Wang JS.
    • Journal Title

      J Gastroenterol

      Volume: 46 Pages: 510-518

    • NAID

      10029028662

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency2010

    • Author(s)
      Kimura A, Kage M, Nagata I, (他16名), Kobayashi K, Saheki T.
    • Journal Title

      Hepatol Res. 40

      Pages: 295-303

    • NAID

      10027407843

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Citrin deficiency and current treatment concepts.2010

    • Author(s)
      Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K.
    • Journal Title

      Mol Genet Metab.

      Volume: 100Suppl

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Brain glutamine synthesis requires neuronal-born aspartate as amino donor for glial glutamate formation.2010

    • Author(s)
      Pardo B, Rodrigues TB, Contreras L, Garzon M, Llorente-Folch I, Kobayashi K, Saheki T, Cerdan S, Satrustegui J.
    • Journal Title

      J Cereb Blood Flow Metab.

      Volume: 31 Pages: 90-101

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Sustaining hyper- citrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2, citrin deficiency, even during the silent period2009

    • Author(s)
      Nagasaka H, Kobayashi K (8番), Saheki T (9番), Yorifuji T
    • Journal Title

      Mol Genet Metab 97

      Pages: 21-26

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period2009

    • Author(s)
      Nagasaka H, 6名、Kobayashi K, Saheki T(9番目), 他2名
    • Journal Title

      Mol Genet Metab

      Volume: 97 Pages: 21-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Citrin deficiency is an important etiology for cholestatic liver disease in children2009

    • Author(s)
      Song YZ, Ushikai M, Kobayashi K, Saheki T.
    • Journal Title

      Zhonghua Er Ke Za Zhi 47

      Pages: 624-627

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)as a cause of liver disease in infants in the UK.2009

    • Author(s)
      Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U.
    • Journal Title

      J Inherit Metab Dis. On line

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Failure to thrive and dyslipidemia caused by citrin deficiency : a novel clinical phenotype2009

    • Author(s)
      Song YZ, Guo L, Yang YL, Han LS, Kobayashi K, Saheki T.
    • Journal Title

      Zhongguo Dang Dai Er Ke Za Zhi 11

      Pages: 328-332

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period2009

    • Author(s)
      Nagasaka H, Okano Y, Tsukahara H, Shigematsu Y, Momoi T, Yorifuji J, Miida T, Ohura T, Kobayashi K, Saheki T, Hirano K, Takayanagi M, Yorifuji T.
    • Journal Title

      Mol Genet Metab. 97

      Pages: 21-26

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China2009

    • Author(s)
      Song YZ, Kobayashi K (10番), Saheki T (11番), Zheng XY
    • Journal Title

      Dig Liver Dis

      Pages: 0-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Neonatal intrahepatic cholestasis caused by citrin deficiency : clinical and laboratory investigation of 13 subjects in mainland of China2009

    • Author(s)
      Song YZ, 8名, Kobayashi K, Saheki T(11番目), Zheng XY
    • Journal Title

      Dig Liver Dis

      Volume: 41(9) Pages: 683-9

    • DOI

      10.1016/j.dld.2008.11.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Neonatal intrahepatic cholestasis caused by citrin deficiency : clinical and laboratory investigation of 13 subjects in mainland of China2009

    • Author(s)
      Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, Saheki T, Zheng XY.
    • Journal Title

      Dig Liver Dis. 41

      Pages: 683-689

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD) as a cause of liver disease in infants in the UK2009

    • Author(s)
      Hutchin T, 6名, Kobayashi K, Saheki T.(9番目), 他2名
    • Journal Title

      J Inherit Metab Dis

      Volume: 11

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] Living donor liver transplantation for type II citrullinemia from a heterozygous donor2009

    • Author(s)
      Hirai I, Kimura W, Suto K, Fzjimoto H, Watanabe T, Fuse A, Kobayashi K, Iijima M, Saheki T, Nakatsuka T, Sugawara Y, Makuuchi M.
    • Journal Title

      Hepatogastroenterology 55

      Pages: 2211-22

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Journal Article] シトリン欠損症原因遺伝子の発見が臨床に与えたインパクト2009

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      日本遺伝カウンセリング学会誌 30

      Pages: 45-50

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.2009

    • Author(s)
      Nagasaka H, Okano Y, Tsukahara H, Shigematsu Y, Momoi T, Yorifuji J, Miida T, Ohura T, Kobayashi K, Saheki T, Hirano K, Takayanagi M, Yorifuji T
    • Journal Title

      Mol Genet Metab 97(1)

      Pages: 21-26

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report2008

    • Author(s)
      Soeda J, Kobayashi K (8番), Saheki T (9番), Kojiro M, Miyagawa S
    • Journal Title

      J Clin Gastroenterol 42

      Pages: 855-860

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects.2008

    • Author(s)
      T. Saheki, K. Kobayashi, M. Terashi, T. Ohura, Y. Yanagawa, Y. Okano, T. Hattori, H. Fujimoto, K. Mutoh, Z. Kizaki, A. Inui.
    • Journal Title

      J Inherit Metab Dis 31(3)

      Pages: 386-394

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects.2008

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

      J Inherit Metab Dis 31

      Pages: 386-394

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.2008

    • Author(s)
      Tabata A, Sheng J-S, Ushikai M, Song Y-Z, Gao H-Z, Lu Y-B, F, Iijima M, Mutoh K, Kishida S, Saheki T, Kobayashi K.
    • Journal Title

      J Hum Genet 53(6)

      Pages: 534-545

    • NAID

      80019634107

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Citrin deficiency.2008

    • Author(s)
      Yuan-Zong Song, K. Kobayashi
    • Journal Title

      J Applied Clin Pediatr 23

      Pages: 1564-1565

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Overview of citrin deficiency: SLC25A13 mutations and the frequency.2008

    • Author(s)
      Kobayashi K, et. al.
    • Journal Title

      J Applied Clin Pediatr (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Overview of citrin deficiency : SLC25A13 mutations and the frequency.2008

    • Author(s)
      Kobayashi K, et al.
    • Journal Title

      J Applied Clin Pediatr 23

      Pages: 1553-1557

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease2008

    • Author(s)
      Komatsu M, Saheki T (10番), Aoyama T, Kobayashi K (12番)
    • Journal Title

      J Hepatol 49

      Pages: 810-820

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Citrin deficiency2008

    • Author(s)
      Kobayashi K, Saheki T
    • Journal Title

      in GeneReviews at GeneTests: Medical Genetics Information Resource

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] シトリン欠損症…責任遺伝子発見と疾患概念について….2008

    • Author(s)
      小林圭子, 佐伯武頼.
    • Journal Title

      小児科 49

      Pages: 203-211

    • NAID

      40015858991

    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinemia with arginine and sodium pyruvate.2008

    • Author(s)
      Mutoh K, Kurokawa K, Kobayashi K, Saheki T
    • Journal Title

      J Inherit Metab Dis (Epub ahead of print)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report.2008

    • Author(s)
      Soeda J, Yazaki M, Nakata T, Miwa S, Ikeda S, Hosoda W, Iijima M, Kobayashi K, Saheki T, Kojiro M, Miyagawa S
    • Journal Title

      J Clin Gastroenterol 42(7)

      Pages: 855-860

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease.2008

    • Author(s)
      Komatsu M, Yazaki M, Tanaka N, Sano K, Hashimoto E, Takei Y, Song Y-Z, Tanaka E, Kiyosawa K, Saheki T, Aoyama T, Kobayashi K
    • Journal Title

      J Hepatol 49(5)

      Pages: 810-820

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Overview of citrin deficiency: SLC25A13 mutations and the frequency.2008

    • Author(s)
      Kobayashi K, Ushikai M, Song Y-Z, Gao H-Z, Sheng J-S, Tabata A, Okumura F, Ikeda S, Saheki T
    • Journal Title

      J Applied Clin Pediatr 23(20)

      Pages: 1553-1557

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.2008

    • Author(s)
      Tabata A, Sheng J-S, Ushikai M, Song Y-Z, Gao H-Z, Lu Y-B, Okumura F, Iijima M, Mutoh K, Kishida S, Saheki T, Kobayashi K
    • Journal Title

      J Hum Genet 53(6)

      Pages: 534-545

    • NAID

      80019634107

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency2008

    • Author(s)
      Tabata A, Saheki T (11番), Kobayashi K (12番)
    • Journal Title

      J Hum Genet 53

      Pages: 534-545

    • NAID

      80019634107

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency : a case report.2008

    • Author(s)
      oeda J, Yazaki M, Nakata T, Miwa S, Ikeda S, Hosoda W, Iijima M, Kobayashi K, Saheki T, Koiiro M, Miyagawa S.
    • Journal Title

      J Clin Gastroenterol 42(7)

      Pages: 855-860

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects.2008

    • Author(s)
      Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, Okano Y, Hattori T, Fujimoto H, Mutoh K, Kizaki Z, Inui A
    • Journal Title

      J Inherit Metab Dis 31(3)

      Pages: 386-394

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate2008

    • Author(s)
      Mutoh K, Kurokawa K, Kobayashi K, Saheki T
    • Journal Title

      J Inherit Metab Dis (Epub ahead of print)

      Pages: 0-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects.2008

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

      J Inherit Metab Dis (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects2008

    • Author(s)
      Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, Okano Y, Hattori T, Fujimoto H, Mutoh K, Kizaki Z, Inui A
    • Journal Title

      J Inherit Metab Dis 31

      Pages: 386-394

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Six cases of citrin deficiency in Korea2008

    • Author(s)
      Ko JM, Saheki T (7番), Kobayashi K (8番), Yoo HW
    • Journal Title

      Int J Mol Med 20

      Pages: 809-815

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.2007

    • Author(s)
      Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui L-C, Tsuji M, Okano A, Kobayashi T
    • Journal Title

      J Biol Chem 282(34)

      Pages: 25041-25052

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] A lean man with nonalcoholic fatty liver disease.2007

    • Author(s)
      Tanaka N, Yazaki M, Kobayashi K.
    • Journal Title

      Clin Gastroenterol Hepatol 5 (3)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency.2007

    • Author(s)
      Ohura T, Kobayashi K, Tazawa Y, Abkawa D, Sakamoto O, Tsuchiya S, Saheki T.
    • Journal Title

      J Inherit Metab Dis 30 (2)

      Pages: 139-144

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin deficiency : a novel cause of failure to thrive that responds to a high protein, low carbohydrate diet.2007

    • Author(s)
      Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F.
    • Journal Title

      Pediatrics 119 (3)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency : A case report and review of the literature.2007

    • Author(s)
      Soeda J, Yazaki M, Nakata T, Miwa S, Ikeda S, Hosoda W, Iijima M, Kobayashi K, Saheki T, Kojiro M, Miyagawa S.
    • Journal Title

      J Clin Gastroenterol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] シトルリン血症の病因と病態.2007

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      臨床化学 36(1)

      Pages: 40-48

    • NAID

      130003357055

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet2007

    • Author(s)
      Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F
    • Journal Title

      Pediatrics 119

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).2007

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

      J Inherit Metab Dis 30

      Pages: 139-144

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] An autopsy case with adult onset type II citrullinemia showing myelopathy.2007

    • Author(s)
      Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, Shimojo H, Kobayashi K, Saheki T, Ikeda S.
    • Journal Title

      J Neurol Sci 253 (1-2)

      Pages: 77-80

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Analysis of citrin protein in lymphocytes.2007

    • Author(s)
      Tokuhara D, Iijima M, Tamamori A, Ohura T, Takaya J, Maisawa S, Kobayashi K, Saheki T, Yamano T, Okano Y. Novel diagnostic approach to citrin deficiency
    • Journal Title

      Mol Genet Metab 90 (1)

      Pages: 30-36

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Pathogenesis and pathophysiology of citrullinemia. (Japanese)2007

    • Author(s)
      Saheki T, Kobayashi K.
    • Journal Title

      Rinshokagaku 36 (1)

      Pages: 40-48

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [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, Sakamoto O, Tsuchiya S, Saheki T
    • Journal Title

      Inherit Metab Dis 30(2)

      Pages: 139-144

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] シトルリン血症の病因と病態2007

    • Author(s)
      佐伯武頼, 小林圭子.
    • Journal Title

      臨床化学 36(1)

      Pages: 40-48

    • NAID

      130003357055

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin/mitochondrial glycerol 3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency2007

    • Author(s)
      Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui LC, Tsuji M, Okano A, Kobayashi T
    • Journal Title

      J Biol Chem 282

      Pages: 25041-25052

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Ca2+ activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin : role in the heart malate-aspartate NADH shuttle.2007

    • Author(s)
      Contreras L, Gomez-Puertas P, Iijima M, Kobayashi K, Saheki T, Satrustegui J.
    • Journal Title

      J Biol Chem 282 (10)

      Pages: 7098-7106

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Downregulation of citrin, a mitochondrial AGC, is associated with apoptosis of hepatocytes.2007

    • Author(s)
      Sawada S, Kinjo T, Makishi S, Tomita M, Arasaki A, Iseki K, Watanabe H, Kobayashi K, Sunakawa H, Iwamasa T, Mori N
    • Journal Title

      Biochem Biophys Res Commun 364(4)

      Pages: 937-944

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Journal Article] シトルリン血症の臨床表現型(小児と成人の相違).2007

    • Author(s)
      小林圭子, 他.
    • Journal Title

      肝胆膵 55

      Pages: 213-222

    • Data Source
      KAKENHI-PROJECT-19390096
  • [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, Sakamoto O, Tsuchiya S, Saheki T
    • Journal Title

      J Inherit Metab Dis 30(2)

      Pages: 139-144

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Journal Article] Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.2006

    • Author(s)
      Lee N-C, Chien Y-H, Kobayashi K, Saheki T, Chen H-L, Chiu P-C, Ni Y-H, Chang M-H, Hwu W-L.
    • Journal Title

      J Inherit Metab Dis 29 (4)

      Pages: 551-555

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Adult onset type [I citrullinemia as a cause of non-alcoholic steatohepatitis.2006

    • Author(s)
      Takagi H, Hagiwara S, Hashizume H, Kanda D, Sato K, Sohara N, Kakizaki S, Takahashi H, Mori M, Kaneko H, Ohwada S, Ushikai M, Kobayashi K, Saheki T.
    • Journal Title

      J Hepatol 44 (1)

      Pages: 236-239

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Adult-onset type II citrullinemia associated with idopathic hypertriglyceridemia as a preceding feature.2006

    • Author(s)
      Terada R, Yamamoto K, Kobayashi K, Sakaguchi K, Iwasaki Y, Saheki T, Shiratori Y.
    • Journal Title

      J Gastroenterol Hepatol 21(10)

      Pages: 1634-1635

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Pathophysiology of citrin deficiency.2006

    • Author(s)
      Saheki T, Kobayashi K, Iijima M, Li MX, Horiuchi M, Tabata A, Lu YB, Ushikai M, Terashi M, Moriyama M.
    • Journal Title

      Hepatic Encephalopathy and Nitrogen Metabolism (eds. Haussinger D, Kircheis G, Schliess F) (Springer Science)

      Pages: 320-328

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin deficiency. (Japanese)2006

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      J Pediatr Practice 69 (11)

      Pages: 1627-1632

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] <総説>シトリン欠損症.2006

    • Author(s)
      小林圭子, 他.
    • Journal Title

      日本小児科学会雑誌 110(8)

      Pages: 1047-1059

    • NAID

      10024461636

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] A difficult and complicated case study : neonatal intrahepatic cholestasis caused by citrin deficiency. (Chinese)2006

    • Author(s)
      Song YZ, Hao H, Ushikai M, Liu GS, Xiao X, Saheki T, Kobayashi K, Wang ZN.
    • Journal Title

      Zhongguo Dang Dai Er Ke Za Zhi : Chin J Contemp Pediatr 8 (2)

      Pages: 125-128

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.2006

    • Author(s)
      Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui L-C, Tanaka M, Nakamura Y, Saheki T.
    • Journal Title

      J Hepatol 44 (5)

      Pages: 930-938

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Essential role of aralar in the transduction of small Ca2+ signals to neuronal mitochondria.2006

    • Author(s)
      Pardo B, Contreras L, Serrano A, Ramos M, Kobayashi K, Iijima M, Saheki T, Satrustegui J.
    • Journal Title

      J Biol Chem 281 (2)

      Pages: 1039-1047

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] A case of adult-onset type II citrullinemia- deterioration of clinical course after infusion of hyperosmotic and high sugar solutions-.2006

    • Author(s)
      Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T, Shinohara Y.
    • Journal Title

      Med Sci Monit 12 (2)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] <Review> Citrin deficiency. (Japanese)2006

    • Author(s)
      Kobayashi K, Iijima M, Ushikai M, Ikeda S, Saheki T.
    • Journal Title

      J Jpn Pediatr Soc 110 (8)

      Pages: 1047-1059

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Progresses and perspectives in the study on citrin deficiency. (Chinese)2006

    • Author(s)
      Lu YB, Peng F, Li MX, Kobayashi K, Saheki T.
    • Journal Title

      Zhonghua Yi Xue Yi Chuan Xue Za Zhi : Chin J Med Genet 23 (6)

      Pages: 655-658

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] <総説>シトリン欠損症.2006

    • Author(s)
      小林圭子, 他
    • Journal Title

      日本小児科学会雑誌 110(8)

      Pages: 1047-1059

    • NAID

      10024461636

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] シトリン欠損症.2006

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      小児科診療 69(11)

      Pages: 1627-1632

    • NAID

      10024461636

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] II. Kan/Tan/Sui : Citrin deficiency and citrullinemia. (Japanese)2006

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      Igakunoayumi, Shokakishikkan (ver. 3) state of art (eds. Takei K, Kawasaki S) (Ishiyakushuppan)

      Pages: 590-593

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.2005

    • Author(s)
      Enns GM, O'Brien WE, Kobayashi K, Shinzawa H, Pellegrino JE.
    • Journal Title

      Obstet Gynecol 105

      Pages: 1244-1246

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency.2005

    • Author(s)
      Tazawa Y, Abukawa D, Sakamoto O, Nagata I, Murakami J, Iizuka T, Okamoto M, Kimura A, Kurosawa T, Iinuma K, Kobayashi K, Saheki T, Ohura T.
    • Journal Title

      Hepatol Res 31 (3)

      Pages: 168-171

    • NAID

      10016478827

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.2005

    • Author(s)
      Hachisu M, Oda Y, Goto M, Kobayashi K, Saheki T, Ohura T, Noma S, Kitanaka S.
    • Journal Title

      Eur J Pediatr 164 (2)

      Pages: 109-110

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin deficiency.2005

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      GeneReviews at GeneTests [www.genetests.org] Medical Genetics Information Resource, developed at the University of Washington, Seattle 9. 16/2006

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency2005

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi
    • Journal Title

      Recent Res Devel Life Sci 3

      Pages: 59-73

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] 先天性代謝異常症と成長障害 : シトリン欠損症を中心に.2005

    • Author(s)
      小林圭子
    • Journal Title

      Pharma Medica 23(3)

      Pages: 238-242

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Inborn error of metabolism and growth retardation : citrin deficiency. (Japanese)2005

    • Author(s)
      Kobayashi K.
    • Journal Title

      Pharma Medica 23 (3)

      Pages: 238-242

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin : adult-onset type II citrullinemia protein (SLC25A13). (Japanese)2005

    • Author(s)
      Saheki T, Kobayashi K.
    • Journal Title

      Seitai no Kagaku 56 (5)

      Pages: 434-435

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency.2005

    • Author(s)
      Saheki T, Kobayashi K.
    • Journal Title

      Recent Res Develop Life Sci 3

      Pages: 59-73

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Cirrhosis in an infant heterozygous for classical citrullinemia.2005

    • Author(s)
      Ezgu FS, Turner L, Dalgic B, Hasanoglu A, Kobayashi K, Saheki T.
    • Journal Title

      Acta Paediatr 94 (12)

      Pages: 1849-1851

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency2005

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi
    • Journal Title

      Recent Res Devel Life Sci 3

      Pages: 59-73

    • Data Source
      KAKENHI-PROJECT-16659281
  • [Journal Article] Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.2005

    • Author(s)
      Takaya J, Kobayashi K, Ohashi A, Ushikai M, Tabata A, Fujimoto S, Yamato F, Saheki T, Kobayashi Y.
    • Journal Title

      Metabolism 54 (12)

      Pages: 1615-1619

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] シトリンcitrin : 成人発症II型シトルリン血症タンパク(SLC25A13).2005

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      生体の科学 56(5)

      Pages: 434-435

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Inherited metabolic diseases : citrin deficiency.2005

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      New Wave of Pediatrics (eds. Yanagisawa M, Eto Y, Igarashi T) Sentan Iryou Gijyutsu Kenkyusho

      Pages: 57-61

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier.2005

    • Author(s)
      Saheki T, Kobayashi K, Iijima M, Moriyama M, Yazaki M, Takei Y, Ikeda S.
    • Journal Title

      Hepatol Res 33 (2)

      Pages: 181-184

    • NAID

      10016809437

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2).2005

    • Author(s)
      Yazaki M, Takei Y, Kobayashi K, Saheki T, Ikeda S.
    • Journal Title

      Intern Med 44 (3)

      Pages: 188-195

    • NAID

      10015567154

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier.2005

    • Author(s)
      Jalil MA, Begum L, Contreras L, Pardo B, Iijima M, Li MX, Ramos M, Marmol P, Horiuchi M, Shimotsu K, Nakagawa S, Okubo A, Sameshima M, Isashiki Y, del Arco A, Kobayashi K, Satrustegui J, Saheki T.
    • Journal Title

      J Biol Chem 280 (35)

      Pages: 31333-31339

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] MRI of adult-onset type II citrullinemia.2005

    • Author(s)
      Sakai K, Matsumoto Y, Kobayashi K, Yamada M.
    • Journal Title

      Intern Med 44 (5)

      Pages: 524-525

    • NAID

      10015651151

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency.2005

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi
    • Journal Title

      Recent Res Develop Life Sci 3

      Pages: 59-73

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.2005

    • Author(s)
      Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang YL, Liu T-T, Chiang S-H, Hsiao K-J, Lau Y-L, Tsui L-C, Lee DH, Saheki T.
    • Journal Title

      J Hum Genet 50 (7)

      Pages: 338-346

    • NAID

      40006831555

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin (肝型aspartate glutamate carrier)欠損症.2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      外科と代謝・栄養 38 (2)

      Pages: 29-38

    • NAID

      10013165057

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Clinical course of eight patients with citrin deficiency (NICCD) involving a severe case received liver transplantation. (Japanese)2004

    • Author(s)
      Tamamori A, Okano Y, Tokuhara D, Yamano T, Ozaki H, Kobayashi K, Saheki T, Fujimoto A.
    • Journal Title

      Bulletin on Special Formula 40

      Pages: 19-24

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Metabolic diseases. (Japanese)2004

    • Author(s)
      Saheki T, Kobayashi K, Horiuchi M.
    • Journal Title

      Generation and Maintain of Animal Model (eds. Moriwaki K, Yamamura K, Yonekawa H) (Life-Science Information Center)

      Pages: 609-620

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin deficiency : from the discovery of disease responsible gene (SLC25A13) to the establishment of disease concept. (Japanese)2004

    • Author(s)
      Kobayashi K.
    • Journal Title

      Bulletin on Special Formula 40

      Pages: 9-13

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] A case of citrin deficiency : severe hepatic dysfunction in an infant requiring liver transplantation. (Japanese)2004

    • Author(s)
      Nakabayashi H, Murakami H, Kitazawa E, Sugitami M, Kobayashi K, Owada M.
    • Journal Title

      Bulletin on Special Formula 40

      Pages: 30-35

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Siblings with neonatal intrahepatic cholestasis caused by SLC25A13 deficiency. (Japanese)2004

    • Author(s)
      Shima Y, Minami K, Yanagawa T, Yoshikawa N, Okuda S, Kobayashi K.
    • Journal Title

      J Jpn Pediatr Soc 108 (4)

      Pages: 639-643

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Neonatal intrahepatic cholestasis caused by citrin deficiency. (Japanese)2004

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      Jpn J Pediatr Med 36 (8)

      Pages: 1256-1258

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia.2004

    • Author(s)
      Yazaki M, Hashikura Y, Takei Y, Ikegami T, Miyagawa S, Yamamoto K, Tokuda T, Kobayashi K, Saheki T, Ikeda S.
    • Journal Title

      Liver Transplantation 10 (4)

      Pages: 550-554

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Adult-onset type II citrullinemia. (Japanese)2004

    • Author(s)
      Saheki T, Kobayashi K.
    • Journal Title

      Liver Diseases Review 2004 (ed. Komata M) Japan Medical Center

      Pages: 191-194

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] シトリン欠損症 : 責任遺伝子発見から疾患概念樹立まで.2004

    • Author(s)
      小林圭子
    • Journal Title

      特殊ミルク情報 40

      Pages: 9-13

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] 成人発症II型シトルリン血症診断における精神科医の役割2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      九州神経精神医学 50

      Pages: 78-78

    • Data Source
      KAKENHI-PROJECT-16659281
  • [Journal Article] シトリン欠損症:責任遺伝子発見から疾患概念樹立まで2004

    • Author(s)
      小林圭子
    • Journal Title

      特殊ミルク情報 40

      Pages: 9-13

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] シトリン欠損症の分子病態生化学2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      生化学 76

      Pages: 1543-1559

    • NAID

      10014229932

    • Data Source
      KAKENHI-PROJECT-16659281
  • [Journal Article] 成人発症II型シトルリン血症の病態形成と治療法2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      消化器科 39

      Pages: 657-663

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Discovery of the disease leaved from target of newborn screening : citrin deficiency. (Japanese)2004

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      Jpn J Pediatr Med 36 (12)

      Pages: 1917-1922

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Pregnancy in a healthy woman with untreated citrullinemia.2004

    • Author(s)
      Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao H-Z, Tabata A, Saheki T, Whelan DT.
    • Journal Title

      Am J Med Genet 129A(1)

      Pages: 77-82

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] 成人発症II型シトルリン血症の病態形成と治療法.2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      消化器科 39 (6)

      Pages: 657-663

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin (liver-type aspartate glutamate carrier) deficiency. (Japanese)2004

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      Jpn J Surgical Metabolism Nutrition 38 (2)

      Pages: 29-38

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] <総説>シトリン欠損症の分子病態生化学.2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      生化学 76 (12)

      Pages: 1543-1559

    • NAID

      10014229932

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] 成人発症II型シトルリン血症診断における精神科医の役割2004

    • Author(s)
      佐伯武頼, 小林圭子
    • Journal Title

      九州神経精神医学 50

      Pages: 78-78

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] <Review> Molecular basis of citrin deficiency. (Japanese)2004

    • Author(s)
      Kobayashi K, Saheki T.
    • Journal Title

      Seikagaku 76 (12)

      Pages: 1543-1559

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency : involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.2004

    • Author(s)
      Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao K-J, Yang YL.
    • Journal Title

      Mol Genet Metab 81

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin欠損による新生児肝内胆汁うっ滞症はどこまで解明されたか?2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      小児内科 36 (8)

      Pages: 1256-1258

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] マス・スクリーニング対象外疾患の患の発見 : シトリン欠損症について-基礎的知見.2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      小児内科 36 (12)

      Pages: 1917-1922

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] A case of type II citrullinemia diagnosed 3 years after right lobectomy for hepatocellular carcinoma. (Japanese)2004

    • Author(s)
      Kanayama M, Ishii K, Wakui N, Momiyama K, Takeuchi M, Matsumaru K, Shinohara M, Nagai H, Watanabe M, Miki K, Nakazaki H, Nonaka H, Kobayashi K, Saheki T, Sumino Y.
    • Journal Title

      Kanzo 45 (10)

      Pages: 542-548

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin欠損による新生児肝内胆汁うっ滞症はどこまで解明されたか?2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      小児内科 36

      Pages: 1256-1258

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening : clinical significance of portal vein imaging.2004

    • Author(s)
      Nishimura Y, Tajima G, Dwi Bahagia A, Sakamoto A, Ono H, Sakura N, Naito K, Hamakawa M, Yoshii C, Kubota M, Kobayashi K, Saheki T.
    • Journal Title

      J Inherit Metab Dis 27 (1)

      Pages: 11-18

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] シトリン欠損症の分子病態生化学2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      生化学 76

      Pages: 1543-1559

    • NAID

      10014229932

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Clinical course of two patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) diagnosed by newborn mass-screening.2004

    • Author(s)
      Ohura T, Kobayashi K, Abukawa D, Sakamoto O, Fujiwara I, Katsushima F, Morimoto T, Kumagai N, Tsutsumi I, Ozawa K, Saheki T, Iinuma K.
    • Journal Title

      J Jpn Soc Mass-screening 14 (1)

      Pages: 47-52

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.2004

    • Author(s)
      Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui L-C.
    • Journal Title

      Mol Cell Biol 24 (2)

      Pages: 527-536

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Adult-onset type II citrullinemia (CTLN2) : pathophysiology and treatment. (Japanese)2004

    • Author(s)
      Saheki T, Kobayashi K.
    • Journal Title

      Gastroenterol 39 (6)

      Pages: 657-663

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [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-基礎的知見2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      小児内科 36

      Pages: 1917-1922

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Citrin(肝型aspartate glutamate carrier)欠損症2004

    • Author(s)
      小林圭子, 佐伯武頼
    • Journal Title

      外科と代謝・栄養 38

      Pages: 29-38

    • NAID

      10013165057

    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Severe hyperlipidemia in a patient with adult-onset type II citrullinemia, associated with decreased lipoprotein lipase protein and dysgenesis of the corpus callosum. (Japanese)2004

    • Author(s)
      Waki M, Mutoh K, Murata K, Uemoto S, Kobayashi K.
    • Journal Title

      The Lipid 15 (3)

      Pages: 266-270

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Kakinoki H A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene.

    • Author(s)
      Ito S, Kurasawa G, Yamamoto K, Furuta I, Ishihara F, Kobayashi K, Saheki T, Matsuura T, Yamauchi M
    • Journal Title

      J Gastroentero l39 (11)

      Pages: 1115-1117

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Chronic pancreatitis associated with adult-onset type II citrullinemia : clinical and pathological findings.

    • Author(s)
      Ikeda S, Kawa S, Takei Y, Yamamoto K, Shimojo H, Tabata K, Kobayashi K, Saheki T.
    • Journal Title

      Ann Intern Med 141 (7)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency : case reports from 16 patients.

    • Author(s)
      Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T.
    • Journal Title

      Mol Genet Metab 83 (3)

      Pages: 213-219

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Journal Article] Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T. Effects of citrin deficiency in the perinatal period : feasibility of newborn mass screening for citrin deficiency.

    • Author(s)
      Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tckuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T.
    • Journal Title

      Pediatr Res 56 (4)

      Pages: 608-614

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390100
  • [Patent] 成人発症II型シトルリン血症の診断方法2012

    • Inventor(s)
      小林圭子、佐伯武頼、ステファンWシェーラー
    • Industrial Property Rights Holder
      小林圭子、佐伯武頼
    • Acquisition Date
      2012-06-08
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Overview of Citrin Defciiency : Pathophysiology and therapy for citrin deficincy based on the mouse model analysis2011

    • Author(s)
      T. Saheki, K. Kobayashi
    • Organizer
      International Symposium on Citrin Deficiency at Matsumoto(招待講演)
    • Place of Presentation
      ホテルブエナビスタ、長野
    • Year and Date
      2011-10-06
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Overview of Citrin Defciiency : Pathophysiology and therapy for citrin deficincy based on the mouse model analysis2011

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi
    • Organizer
      International Symposium on Citrin Deficiency at Matsumoto
    • Place of Presentation
      ホテルブエナビスタ(長野)(招待講演)
    • Year and Date
      2011-10-06
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] CITRIN DEFICIENCY PATHOPHYSIOLOGY AND TREATMENT BASED ON ANIMAL MODEL ANALYSIS2010

    • Author(s)
      Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Kobayashi K.
    • Organizer
      9th Asia Pacific Conference on Human Genetics
    • Place of Presentation
      中国(香港)
    • Year and Date
      2010-12-02
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Pathophysiology and therapy of citrin deficiency: consideration from analysis of the model mice2010

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      The 1st Asian Congress for Inherited Metabolic Diseases (ACIMD): Plenary Lecture
    • Place of Presentation
      Fukuoka
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Pathophysiology and therapy of citrin deficiency judging from analysis of the model mice.2010

    • Author(s)
      Saheki T, Kobayashi K.
    • Organizer
      Joint Seminar on Citrin Deficiency in The Conference of China-Japan Inherited Metabolic Diseases 2010
    • Place of Presentation
      中国(北京)
    • Year and Date
      2010-05-20
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Plenary Lecture Pathophysiology and therapy of citrin deficiency : consideration from analysis of the model mice2010

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      The 1^<st> Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      Fukuoka, Japan
    • Year and Date
      2010-03-09
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] SLC25A13 MUTATIONS/VARIATIONS IN CITRIN DEFICIENCY : THE FREQUENCY AND DISTRIBUTION2010

    • Author(s)
      Kobayashi K1, Ushikai M1, Saheki T
    • Organizer
      9th Asia Pacific Conference on Human Genetics
    • Place of Presentation
      中国(香港)
    • Year and Date
      2010-12-02
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Pathophysiology and therapy of citrin deficiency : consideration from analysis of the model mice2010

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      The 1^<st> Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      Fukuoka
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Plenary Lecture Pathophysiology and therapy of citrin deficiency : consideration from analysis of the model mice2010

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      The 1st Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      福岡国際会議場, Fukuoka
    • Year and Date
      2010-03-09
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] CITRIN DEFICIENCY : PATHOPHYSIOLOGY AND TREATMENT BASED ON ANIMAL MODEL ANALYSIS2010

    • Author(s)
      Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Kobayashi K
    • Organizer
      9th Asia Pacific Conference on Human Genetics
    • Place of Presentation
      Hong Kong(china)
    • Year and Date
      2010-12-02
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Overview of citrin deficiency : The distribution and frequency of SLC25A13 mutations2010

    • Author(s)
      小林圭子
    • Organizer
      The 1^<st> Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      Fukuoka
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Overview of citrin deficiency: The distribution and frequency of SLC25A13 mutations2010

    • Author(s)
      Kobayashi K, Ushikai M, Saheki T
    • Organizer
      The 1st Asian Congress for Inherited Metabolic Diseases (ACIMD): Citrin AASPP-Workshop
    • Place of Presentation
      Fukuoka
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin deficiency and current treatment concepts.2009

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism
    • Place of Presentation
      La Jolla, California, USA
    • Year and Date
      2009-08-28
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] 成人発症II型シトルリン血症治療の過去、現在、未来2009

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      第27回日本肝移植研究会
    • Place of Presentation
      静岡三島
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin deficiency and current treatment concepts2009

    • Author(s)
      Saheki T., Kobayashi K.
    • Organizer
      Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism
    • Place of Presentation
      La Jolla, USA
    • Year and Date
      2009-08-28
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] 日本で発見された先天代謝異常症シリーズ『シトリン欠損症の発見』2009

    • Author(s)
      佐伯武頼、小林圭子
    • Organizer
      第5回日本先天代謝異常学会セミナー
    • Place of Presentation
      幕張
    • Year and Date
      2009-07-18
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] Citrin deficiency and current treatment concepts2009

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism : Overcoming Barriers-New Developments and Future Directions for Urea Cycle Disorders
    • Place of Presentation
      La Jolla, USA
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] シトリン欠損症の発見:研究は面白い2009

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      第5回日本先天代謝異常学会セミナー
    • Place of Presentation
      千葉幕張
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin deficiency and current treatment concepts2009

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism: Overcoming Barriers-New Developments and Future Directions for Urea Cycle Disorders
    • Place of Presentation
      La Jolla, USA
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] シトリン欠損症原因遺伝子の発見が臨床に与えたインパクト2009

    • Author(s)
      佐伯武頼、小林圭子
    • Organizer
      第33回日本遺伝カウンセリング学会
    • Place of Presentation
      西宮
    • Year and Date
      2009-07-25
    • Data Source
      KAKENHI-PROJECT-21591337
  • [Presentation] シトリン欠損症原因遺伝子の発見が臨床に与えたインパクト2009

    • Author(s)
      佐伯武頼, 小林圭子
    • Organizer
      第33回日本遺伝カウンセリング学会
    • Place of Presentation
      西宮
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin/mGPDH ダブルKOマウスを用いるシトリン欠損症の治療法の開発2008

    • Author(s)
      佐伯武頼, 小林圭子, 飯島幹雄
    • Organizer
      第50回日本先天代謝異常学会総会・第7回アジア先天代謝異常学会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Presentation] 肝臓特異的疾患シトリン欠損症の特異な食癖と糖質毒性.2008

    • Author(s)
      小林圭子, 他
    • Organizer
      第91回日本消化器病学会九州支部例会・第85回日本消化器内視鏡学会九州支部例会
    • Place of Presentation
      アクロス福岡(福岡市)
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin deficiency: Pathophysiology and issues of its treatment(招待講演)2008

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      The Celebration Ceremony for the 10th Anniversary of CJCP & the 2008 National Conference on Pediatric Hotspot
    • Place of Presentation
      Changsha, Hunan, China
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Presentation] Citrin deficiency: Pathophysiology and issues of its treatment2008

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      AASPP-Seminar on Citrin Deficiency in Vietnam jointed with Pediatric Society Meeting of HCMC
    • Place of Presentation
      Ho Chi Minh City, Vietnam
    • Year and Date
      2008-06-26
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Presentation] Distribution and frequency of citrin deficiency with SLC25A13 mutations2008

    • Author(s)
      Kobayashi K, Ushikai M, Sheng J-S, Song Y-Z, Gao H-Z, Okumura F, Ikeda S, Saheki T
    • Organizer
      The 11th Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM)
    • Place of Presentation
      Seoul and Jeju, Korea
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin deficiency : Pathophysiology and issues of its treatment.2008

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi.
    • Organizer
      The Celebration Ceremony for the 10^<th> Anniversary of CJCP & the 2008 National Conference on Pediatric Hotspot
    • Place of Presentation
      Changsha, Hunan, China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] ヒトシトリン欠損症モデルマウスにおける高アンモニア血症発症機構.2008

    • Author(s)
      佐伯武頼, 小林圭子.
    • Organizer
      日本実験動物科学技術2008大会(第55回日本実験動物学会総会、第42回日本実験動物技術者協会総会)
    • Place of Presentation
      仙台国際センター(仙台市)
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Distribution and frequency of citrin deficiency with SLC25A13 mutations.2008

    • Author(s)
      Keiko Kobayashi, et al.
    • Organizer
      The 11^<th> Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM)
    • Place of Presentation
      Seoul and Jeju, Korea
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] 感染性胃腸炎の一般的な食事療法により状態の悪化を招いたシトリン欠損症の1例.2008

    • Author(s)
      池田さやか, 小林圭子, 他
    • Organizer
      第39回鹿児島栄養代謝研究会
    • Place of Presentation
      鹿児島
    • Year and Date
      2008-02-29
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] A newly-established disease entity, citrin deficiency. (Educational Lecture)2008

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi.
    • Organizer
      The 11th Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM)
    • Place of Presentation
      ソウル(韓国)
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Presentation] Overview of citrin deficiency : SLC25A13 mutations and the frequency.2008

    • Author(s)
      Keiko Kobayashi, et al.
    • Organizer
      The Celebration Ceremony for the 10^<th> Anniversary of CJCP & the 2008 National Conference on Pediatric Hotspot
    • Place of Presentation
      Changsha, Hunan, China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] A newly-established disease entity, citrin deficiency. (Educational Lecture)2008

    • Author(s)
      Takeyori Saheki, Keiko Kobayashi.
    • Organizer
      The 11^<th> Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM)
    • Place of Presentation
      Seoul and Jeju, Korea
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] A newly-established disease entity, citrin deficiency(教育講演)2008

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      The 11th Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM)
    • Place of Presentation
      Seoul and Jeju, Korea
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Presentation] Overview of citrin deficiency: SLC25A13 mutations and the frequency.2007

    • Author(s)
      Kobayashi K.
    • Organizer
      10th Military Annual Meeting on Pediatrics and 3rd National Conference on Pediatric Hotspots
    • Place of Presentation
      呼和浩特市・内モンゴル自治区・China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Overview of citrin deficiency and the frequency2007

    • Author(s)
      Kobayashi K
    • Organizer
      10th Military Annual Meeting on Pediatrics and 3rd National Conference on Pediatric Hotspots
    • Place of Presentation
      中国・内モンゴル自治区・呼和浩特市
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Overview of Citrin Deficiency: SLC25A13 Mutations and the Frequency.2007

    • Author(s)
      Kobayashi K, et. al.
    • Organizer
      The 2nd International Symposium on Citrin Deficiency
    • Place of Presentation
      海口市・海南省・China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Laboratory findings in citrin deficiency.2007

    • Author(s)
      Ikeda S, Kobayashi K, et. al.
    • Organizer
      The 2nd International Symposium on Citrin Deficiency
    • Place of Presentation
      海口市・海南省・China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Pathobiochemistry and dietary treatment of citrin deficiency.2007

    • Author(s)
      Saheki T, Kobayashi K.
    • Organizer
      WORKSHOP on Nutrition and Dietary Treatment Dietary Aspects of 'New' Disorders: Satellite Meeting in Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      Hamburg, Germany
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Pathophysiology and nutritional aspect of citrin deficiency.2007

    • Author(s)
      Saheki T, Kobayashi K.
    • Organizer
      10th Military Annual Meeting on Pediatrics and 3rd National Conference on Pediatric Hotspots
    • Place of Presentation
      呼和浩特市・内モンゴル自治区・China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Pathophysiology of citrin deficiency: carbohydrate toxicity in citrin deficiency.2007

    • Author(s)
      Saheki T, Kobayashi K.
    • Organizer
      The 2nd International Symposium on Citrin Deficiency
    • Place of Presentation
      海口市・海南省・China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] 国内外のシトリン欠損症におけるSLC25A13変異と頻度2007

    • Author(s)
      小林圭子, 牛飼美晴, 盛建勝, 宋元宗, 奥村史彦, 池田さやか, 飯島幹雄, 佐伯武頼
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] シトリン欠損症の分子遺伝学と病態生化学.2007

    • Author(s)
      小林圭子, 佐伯武頼.
    • Organizer
      第34回日本小児栄養消化器肝臓学会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Pathophysiology and nutritional aspect of citrin deficiency2007

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      10th Military Annual Meeting on Pediatrics and 3rd National Conference on Pediatric Hotspots
    • Place of Presentation
      中国・内モンゴル自治区・呼和浩特市
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Pathophysiology and nutritional aspect of citrin deficiency(招待講演)2007

    • Author(s)
      Saheki T, Kobayashi K
    • Organizer
      10th Military Annual Meeting on Pediatrics and 3rd National Conference on Pediatric Hotspots
    • Place of Presentation
      中国・内モンゴル自治区・呼和浩特市
    • Data Source
      KAKENHI-PROJECT-19591230
  • [Presentation] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).2007

    • Author(s)
      Ohura T, Kobayashi K, et. al.
    • Organizer
      The 2nd International Symposium on Citrin Deficiency
    • Place of Presentation
      海口市・海南省・China
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Overview of Citrin Deficiency: SLC25A13 Mutations and the Frequency2007

    • Author(s)
      Kobayashi K, Ushikai M, Sheng J-S, Song Y-Z, Okumura F, Tabata A, Saheki T
    • Organizer
      The 2nd International Symposium on Citrin Deficiency
    • Place of Presentation
      Haikou-Hainan
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] Citrin欠損症における追跡調査の現状と発育成長に及ぼす影響.2007

    • Author(s)
      池田さやか, 小林圭子, 他
    • Organizer
      第49回日本先天代謝異常学会
    • Place of Presentation
      山形
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] ヒトシトリン欠損症モデルマウスの確立とその肝臓遺伝子発現の特徴.2007

    • Author(s)
      佐伯武頼, 小林圭子, 他
    • Organizer
      第49回日本先天代謝異常学会
    • Place of Presentation
      山形
    • Data Source
      KAKENHI-PROJECT-19390096
  • [Presentation] 国内外のシトリン欠損症におけるSLC25A13変異と頻度.2007

    • Author(s)
      小林圭子, 他
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19390096
  • 1.  SAHEKI Takeyori (10056070)
    # of Collaborated Projects: 21 results
    # of Collaborated Products: 172 results
  • 2.  IIJIMA Mikio (00305111)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 17 results
  • 3.  NAKAGAWA Shiro (70073666)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 4.  OKANO Yoshiyuki (60231213)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 5.  MIYAZAKI Jyunnichi (10200156)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 6.  NODA Takashi (60136231)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 7.  ARAKAWA Hiroyuki (40212617)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 8.  TOMOMURA Mineko (30217559)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 9.  URAMOTO Hiroyuki (50253860)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 10.  HORIUCHI Masahisa (50264403)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 11.  OHURA Toshihiro (10176828)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 12.  ASOU Kazuyoshi
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 13.  KUHARA Tomiko (30080568)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 14.  MORITA Takashi (70150349)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 15.  YATA Toshihiko (60166527)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  OSAME Mitsuhiro (10041435)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  KAMEYAMA Maski (60150059)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  NAGATA Ikuo (50252846)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  IITSUKA Tohiyuki (70271046)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  KURE Shigeo (10205221)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  SAKAMOTO Osamu (20333809)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  KONDO Yoshiaki (00221250)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  廣瀬 伸一 (60248515)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  安田 いづみ (10305112)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  KUDOU Satoshi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  KAWAJIRI Mie
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  TSURUHARA Akifumi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results

URL: 

Are you sure that you want to connect your ORCID iD to this researcher?
* This action can be performed only by the researcher themselves.

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