SAHEKI Takeyori 佐伯武頼

Researcher Number	10056070
Other IDs
External Links
Affiliation (based on the past Project Information) *help	2016 – 2023: 鹿児島大学, 医歯学総合研究科, 客員研究員 2017: 鹿児島大学, 医歯(薬)学総合研究科, 客員研究員 2017: 鹿児島大学, 医歯(薬)学総合研究科, 教授 2015: 鹿児島大学, 医歯(薬)学総合研究科, 研究員 2015: 鹿児島大学, 医歯学総合研究科, 研究員 … More 2011 – 2014: 熊本大学, 生命資源研究・支援センター, 特任教授 2013: 熊本大学, 学内共同利用施設等, 教授 2012 – 2013: 熊本大学, 生命資源研究・支援センター, 教授 2006 – 2010: Tokushima Bunri University, Institute for Health Sciences, Professor, 健康科学研究所, 教授 2005: 鹿児島大学, 大学院医歯学総合研究科, 教授 2003 – 2005: Kagoshima University, Graduate School of Medical and Dental Sciences, Professor, 大学院・医歯学総合研究科, 教授 1990 – 2002: 鹿児島大学, 医学部, 教授 1991: 鹿島児大学, 医学部, 教授 1987 – 1988: 鹿児島大学, 医学部生化学, 教授 1986 – 1988: 鹿児島大学, 医学部, 教授 1986: 鹿大, 医学部, 教授 1985: 鹿児島大学, 医, 教授 Less
Review Section/Research Field	Principal Investigator Pathological medical chemistry / Pediatrics / General medical chemistry Except Principal Investigator Pathological medical chemistry / Pediatrics / Human genetics / Basic Section 59020:Sports sciences-related / Sports science / Pathological medical chemistry / General medical chemistry … More / Human genetics / 代謝生物化学 / General internal medicine (including Psychosomatic medicine) / Sports science Less
Keywords	Principal Investigator 高アンモニア血症 / シトルリン血症 / Hyperammonemia / 遺伝子治療 / シトリン欠損症 / Urea cycle / シトリン / 尿素サイクル / Octn2 / PDK4 … More / Cardiac hypertrophy / Carnitine / 遺伝子発現 / AP-1 / 心肥大 / カルニチン / Argininosuccinate synthetase / 神経伝達物質 / アルギニン / 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 / β-サラセミア / 色素性乾皮症 / プロリダーゼ / アルギナーゼ / 無アルブミン血症 / 先天性代謝異常症 / アミノ酸 / グリセロール / 糖質毒性 / マウスモデル / ピルビン酸ナトリウム / NICCD / 成人発症II型シトルリン血症(CTLN2) / アスパラギン酸・グルタミン酸ミトコンドリア膜輸送体 / 成長障害 / 尿素サイクル酵素 / 修飾遺伝子 / 滅菌餌 / 忌避 / ショ糖摂取 / アミノ酸の効果 / 糖質の毒性 / シトリン欠損症モデルマウス / alanine / aspartate / ornithine / NADH / sugar toxicity / hyperammonemia / CTLN2 / citrin deficiency / Antisense-RNA / Citrullinemia / アルギニノコハク酸化合成酵素 / In Situ Hybridization / アンチセンスRNA / Neurotransmitter / Glutamine / Urea synthesis / Ornithine transcarbamylase / Sparse-fur mice / ミトルリン / コンジェニックマウス / 肝臓潅流法 / sparse-furマウス / グルタミン / オロト酸 / シトルリン / 尿素合成能 / オルニチントランスカルバミラーゼ / spfマウス / Long-chain fatty acid / Juvenile visceral steatosis (JVS) mice / CDV (carnitine deficiency-associated genes) / Carnitine deficiency / カルニチン膜輸送体 / カルニチン欠乏 / CDV-3 / CDV-1 / JVSマウス / カルチニン欠乏 / Gene expression / Carbamoylphosphate synthetase / Fatty acid / カルバミルリン酸合成酵素(Carbamylphosphate synthetase) / カルバミルリン酸合成酵素 / 脂肪酸 / Differential display / JVS (Juvenile Visceral Steatosis) mouse / Long-chain unsaturated fatty acid / 膜輸送活性 / Atrial natriuretic factor / グルココルチコイド / jvs(juvenile visceral steatosis)マウス / JVS(Juvenile Visceral Steatosis)マウス / c-jun / JUS(juvenile Visceral Steatosi s)マウス / 長鎖不飽和脂肪酸 / differential display / Nerve cells / Nitric Oxide (NO) / Arginine / Argininosuccinate lyase / Argininosuccinate / 免疫組織化学 / カルシウム / グルタミン酸 / アルギニノコハク酸リア-ゼ / 神経細胞 / 一酸化ちっ素(NO) / アルギニノコハク酸 / 高脂血症 / サラセミア / 糖原病【II】型 / 先天性高アンモニア血症 / 分子遺伝学 / グリセロール3－リン酸 / アスパラギン酸グルタミン酸ミトコンドリア膜輸送体 / glycerol 3-hosphate / glycerol3-phosphate / エタノール / glycerol-3-phosphate / メタボローム解析 / 新生児肝内胆汁うっ滞症(NICCD) / NICCD(シトリン欠損による新生児肝内胆汁うっ滞) / glycerol 3-phosphate / 治療法 / 病態解析 / モデル動物 / 先天代謝異常症 / yeast two hybrid / citrullinemia / channeling / argininosuccinate synthetase / チャネリング / 組織化 … More Except Principal Investigator SLC25A13 / citrin / aspartate glutamate carrier / シトルリン血症 / JVSマウス / カルニチン / Homozygosity mapping / 分子遺伝学 / Citrin / NADH shuttle / aspartate-glutamate carrier / 酵素 / mitochondria / 脂肪酸代謝 / 中枢神経系 / オレキシン / 絶食 / トランスジェニックマウス / グルタメイト脱水素酵素 / 低血糖 / アンモニア / インスリン / 肝臓 / 遺伝子 / 胆汁うっ滞性新生児肝炎(NICCD) / 成人発症II型シトルリン血症(CTLN2) / malate-aspartate shuttle / 分子生物学 / JVS mice / CDV-3 / CDV-1 / 心肥大 / citrullinemia / SLC25A12 / aralar / Aspartate glutamate carrier / Argininosuccinate Synthetase / Malate Aspartate Shuttle / Aspartate Glutamate Carrier / 成人発症II型シトルリン血症 / 遺伝子診断 / Tissue specific abnormality / Urea cycle enzyme deficiency / Argininosuccinate synthetase deficiency / Citrullinemia / RFLP解析 / 尿素サイクル酵素異常症 / アルギニノコハク酸合成酵素欠損症 / 先天代謝異常 / 遺伝生化学 / 先天性代謝病 / 高アンモニア血症 / 脂肪酸酸化 / glycerophosphate shuttle / PCR / 遺伝子発現 / アミノ酸 / orexin / pyruvate dehydrogenase kinae / fatty aicd / cardiac hypertrophy / carnitine / PPARα / 脂肪酸毒性 / ピルビン酸脱水素酵素キナーゼ / 脂肪酸 / glycerol phosphate shuttle / malaie-aspartate shuttle / cholestatic neonatal hepatitis / adult-onset type II citrullinemia / medium-chain triglyceride / Prostaglandin / Cardiac hypertrophy / cAMP responsive element / Carnitine / 酸素消費 / 呼吸商 / プロスタグランディンF2α / 中鎖脂肪酸 / プロスタグランディン / CREB / cytochrome c / 細胞死 / チトクロームC / ミトコンドリア / Ca-dependent mitochondrial solute carrier / glutamate carrier / aspartate / Hepatic Cholestatic Jaundice / Neonatal Hepatitis / Adult-onset type II citrullinemia / urea cycle / argininosuccinate synthetase / 新生児肝内胆汁うっ滞症 / II型シトルリン血症 / Urea cycle / Argininosuccinate synthetase / 肝内胆汁うつ滞症 / 肝内胆汁うっ滞性黄疸 / 新生児肝炎 / DNA diagnosis / Abnormal splicing / Mutation analysis / シリトルン血症 / 変異解析 / スプライシング異常 / 肝臓特異的異常 / RFLP analysis / 臓器特異的異常 / compound heterozygote / in vitro発現系 / RFLP 解析 / 臓器特異的発現異常 / 免疫組職化学 / グルタミン合成酵素 / 窒素代謝の分担性 / アルギニノコハク酸合成酵素 / 肝小葉内酵素分布 / 先天性代謝異常 / 動物モデル / 高インスリン血症 / グルタミン酸脱水素酵素 / 栄養学 / 行動学 / 食行動解析 / シトリン欠損症 / グルタメト脱水素酵素 / てんかん / アルギノコハク酸シンテターゼ / PCR法 / 診断法 / 急性転化 / 慢性骨髄性白血病 / 末梢血リンパ球 / アルギニノコハク酸シンテタ-ゼ / 白血病 Less

Molecular mechanisms of prolonged effect of carnitine administration on whole-body metabolism and the central nervous system
- Principal Investigator
  
  Yoshida Goichiro
- Project Period (FY)
  2019 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 59020:Sports sciences-related
- Research Institution
  National Institute of Fitness and Sports in Kanoya
What is the cause of carnitine administration? Prolonged effects on general metabolism and central nervous system
- Principal Investigator
  
  YOSHIDA Goichiro
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Sports science
- Research Institution
  National Institute of Fitness and Sports in Kanoya
Genetic and environmental factors related to onset and severity of CTLN2 in citrin deficiencyPrincipal Investigator
- Principal Investigator
  
  Saheki Takeyori
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kagoshima University
Mechanism of aversion to carbohydrate in citrin deficiency
- Principal Investigator
  
  USHIKAI Miharu
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  General internal medicine (including Psychosomatic medicine)
- Research Institution
  Kagoshima University
To developtherapeutic and prophylactic procedures for citrin deficiencyPrincipal Investigator
- Principal Investigator
  
  SAHEKI Takeyori
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Pathophysiological study and the developments of therapy using mouse model of glutamate dehydrogenase disorder
- Principal Investigator
  
  OKANO YOSHIYUKI
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Hyogo Medical University
Prolonged effect of carnitine administration on metabolism and central nervous system of fasted carnitine-deficient mice
- Principal Investigator
  
  YOSHIDA GOICHIRO
- Project Period (FY)
  2011 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Sports science
- Research Institution
  National Institute of Fitness and Sports in Kanoya
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 therapeuticsPrincipal Investigator
- 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 symptoms
- 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 modelPrincipal Investigator
- 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
  
  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 onset
- 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
Molecular mechanism of cardiac hypertrophy caused by lipid toxicity
- Principal Investigator
  
  HORIUCHI Masahisa
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pathological medical chemistry
- Research Institution
  Kagoshima 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
Identification of nuclear proteins involved in cardiac hypertrophy caused by abnormality of fatty acid metabolism
- Principal Investigator
  
  HORIUCHI Masahisa
- Project Period (FY)
  2002 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pathological medical chemistry
- Research Institution
  Kagoshima University
Molecular Genetics and Pathophysiology of Adult-Onset Type II Citrullinemia
- 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
- Principal Investigator
  
  佐伯武頼
- 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 deficiencyPrincipal Investigator
- 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
Mechanism of suppression of urea cycle enzyme gene expression under carnitine deficiency in juvenile visceral steatosis mice.Principal Investigator
- Principal Investigator
  
  SAHEKI Takeyori
- Project Period (FY)
  1996 – 1997
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pathological medical chemistry
- Research Institution
  Kagoshima University
Pathogenesis and pathophysiology of inherited carnitine deficiency using carnitine-deficient JVS micePrincipal Investigator
- 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
慢性骨髄白血病の急性転化の分子生物学的診断と予知法の開発
- Principal Investigator
  
  杉村和久
- Project Period (FY)
  1992
- Research Category
  
  Grant-in-Aid for Cancer Research
- Research Institution
  Kagoshima University
Molecular basis of argininosuccinate synthetase deficiency in citrullinemia
- 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
成人T白血病細胞株に認められたアルギニノコハク酸合成酵素遺伝子発現の異常亢進;ーその白血病診断マ-カ-としての意義ー
- Principal Investigator
  
  杉村和久
- Project Period (FY)
  1991
- Research Category
  
  Grant-in-Aid for Cancer Research
- Research Institution
  Hokkaido University
Argininosuccinate as a possible neuromodulator and localization of its metabolizing enzymesPrincipal Investigator
- 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
  
  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
先天性代謝異常症の分子遺伝学的研究Principal Investigator
- Principal Investigator
  
  佐伯武頼
- Project Period (FY)
  1987
- Research Category
  
  Grant-in-Aid for Special Project Research
- 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
先天性代謝異常症の分子遺伝学的研究Principal Investigator
- Principal Investigator
  
  佐伯武頼
- Project Period (FY)
  1986
- Research Category
  
  Grant-in-Aid for Special Project Research
- 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
  
  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
- 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
先天性代謝異常症の分子遺伝学的研究Principal Investigator
- Principal Investigator
  
  佐伯武頼
- Project Period (FY)
  1985
- Research Category
  
  Grant-in-Aid for Special Project Research
- Research Institution
  Kagoshima University
先天性代謝病の病因解析と治療に関する研究(総括班)
- Principal Investigator
  
  北川照男
- Project Period (FY)
  1985 – 1987
- Research Category
  
  Grant-in-Aid for Special Project Research
- Research Institution
  Nihon University
先天性代謝病の病因解析と治療に関する研究(総括班)
- Principal Investigator
  
  北川照男
- Project Period (FY)
  1985 – 1988
- Research Category
  
  Grant-in-Aid for Special Project Research
- Research Institution
  Nihon University

[Book] シトリン欠損症2017
- Author(s)
  佐伯武賴
- Total Pages
  128
- Publisher
  諷詠社
- ISBN
  9784434229794
- Data Source
  KAKENHI-PROJECT-15K09595
[Book] シトリン欠損症―医者も知らない特異な疾患ー2017
- Author(s)
  佐伯武賴
- Total Pages
  128
- Publisher
  風詠社
- Data Source
  KAKENHI-PROJECT-15K09595
[Book] Animal models of enhanced oxidative stress” (especially murine model of human citrin deficiency)2014
- Author(s)
  Takeyori Saheki
- Total Pages
  24
- Publisher
  Springer Science and Business Media
- Data Source
  KAKENHI-PROJECT-24591516
[Book] Oxidative Stress in Applied Basic Research and Clinical Practice - Pediatric Disorders2014
- Author(s)
  Takeyori Saheki
- Total Pages
  24
- Publisher
  Springer Science and Business Media
- Data Source
  KAKENHI-PROJECT-24591516
[Book] 先天代謝異常ハンドブック2012
- Author(s)
  佐伯武頼
- Total Pages
  2
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-24591516
[Book] Hepatic Encephalopathy and Nitrogen Metabolism2006
- Author(s)
  Saheki T. et al.
- Total Pages
  590
- Publisher
  Springer Science
- 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
- Data Source
  KAKENHI-PROJECT-16390100
[Book] Hepatic Encephalopathy and Nitrogen Metabolism2006
- Author(s)
  Saheki T, et al.
- Total Pages
  590
- Publisher
  Springer Science
- Description
  「研究成果報告書概要(和文)」より
- 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] 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(分担)
- Total Pages
  956
- Publisher
  エル・アイ・シー(Life-Science Information Center)(東京)
- Data Source
  KAKENHI-PROJECT-16590250
[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] 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(分担)
- 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-16590250
[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] Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.2017
- Author(s)
  Nagasaka H, Komatsu H, Inui A, Nakacho M, Morioka I, Tsukahara H, Kaji S, Hirayama S, Miida T, Kondou H, Ihara H, Yagi M, Kizaki Z, Bessho K, Kodama T, Iijima K, Saheki T, Yorifuji T, Honda A
- Journal Title
  
  Mol. Genet. Metab.
  
  Volume: 120 Issue: 3 Pages: 207-212
- DOI
  10.1016/j.ymgme.2016.12.011
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K00849, KAKENHI-PROJECT-15K09595, KAKENHI-PROJECT-26461609, KAKENHI-PROJECT-15K08624, KAKENHI-PROJECT-26461644
[Journal Article] Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.2017
- Author(s)
  Saheki T, Inoue K, Ono H, Fujimoto Y, Furuie S, Yamamura KI, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Moriyama M, Sinasac DS, Yamamoto T, Furukawa T, Kobayashi K.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 120 Pages: 306-316
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09595
[Journal Article] Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.2017
- Author(s)
  Saheki T, Inoue K, Ono H, Fujimoto Y, Furuie S, Yamamura KI, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Moriyama M, Sinasac DS, Yamamoto T, Furukawa T, Kobayashi K.
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 120 Issue: 4 Pages: 306-316
- DOI
  10.1016/j.ymgme.2017.02.004
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26450447, KAKENHI-PROJECT-15K01623, KAKENHI-PROJECT-16K07121, KAKENHI-PROJECT-15K09595, KAKENHI-PROJECT-19K22566
[Journal Article] Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.2017
- Author(s)
  Inui A, Hashimoto T, Sogo T, Komatsu H, Saheki T, Fujisawa T.
- Journal Title
  
  Hepatol Res.
  
  Volume: 46 Issue: 4 Pages: 357-362
- DOI
  10.1111/hepr.12559
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09595
[Journal Article] Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondria glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.2015
- Author(s)
  Moriyama M, Fujimoto Y, Rikimaru S,Ushikai M, Kuroda E, Kawabe K, Takano K,Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Okano Y, Yazaki M, Ikeda SI,Zhang C, Song YZ,Sakamoto O, Kure S, Mitsubuchi H, Endo F, Horiuchi M, Nakamura Y, Yamamura KI, Saheki T.
- Journal Title
  
  Biochim Biophys Acta.
  
  Volume: 印刷中 Issue: 9 Pages: 1787-1795
- DOI
  10.1016/j.bbadis.2015.04.023
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24590892, KAKENHI-PROJECT-15K07768, KAKENHI-PROJECT-15K09595, KAKENHI-PROJECT-26450447, KAKENHI-PROJECT-221S0001, KAKENHI-PROJECT-15J12259, KAKENHI-PROJECT-25461275, KAKENHI-PROJECT-26850209, KAKENHI-PROJECT-26000012
[Journal Article] Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.2014
- Author(s)
  Zhang ZH, Yang ZG, Chen FP, Kikuchi A, Liu ZH, Kuang LZ, Li WM, Song YZ, Kure S, Saheki T.
- Journal Title
  
  Tohoku J Exp Med.
  
  Volume: 233 Pages: 275-281
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591516
[Journal Article] Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency2014
- Author(s)
  Zhang ZH, Yang ZG, Chen FP, Kikuchi A, Liu ZH, Kuang LZ, Li WM, Song YZ, Kure S, Saheki T
- Journal Title
  
  Tohoku J Exp Med
  
  Volume: 233 Pages: 275-281
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23500783
[Journal Article] Cytosolic reducing power preserves glutamate in retina2013
- Author(s)
  Du J, Cleghorn W, Contreras L, Linton JD, Chan GC, Chertov AO, Saheki T, Govindaraju V, Sadilek M, Satrustegui J, Hurley JB.
- Journal Title
  
  Proc Natl Acad Sci USA
  
  Volume: 110 Issue: 46 Pages: 18501-18506
- DOI
  10.1073/pnas.1311193110
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500783, KAKENHI-PROJECT-24591516
[Journal Article] SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.2013
- Author(s)
  Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T.
- Journal Title
  
  PLoS One.
  
  Volume: 8 Issue: 9 Pages: e74544-e74544
- DOI
  10.1371/journal.pone.0074544
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591516
[Journal Article] Calcium-regulation of mitochondrial respiration maintains ATP homeostasis and requires ARALAR/AGC1-malate aspartate shuttle in intact cortical neurons.2013
- Author(s)
  Llorente-Folch I, Rueda CB, Amigo I, del Arco A, Saheki T, Pardo B, Satrústegui J.
- Journal Title
  
  J Neurosci.
  
  Volume: 33 Issue: 35 Pages: 13957-13971
- DOI
  10.1523/jneurosci.0929-13.2013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591516
[Journal Article] A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine.2013
- Author(s)
  Yazaki M, Kinoshita M, Ogawa S, Fujimi S, Matsushima A, Hineno A, Tazawa K, Fukushima K, Kimura R, Yanagida M, Matsunaga H, Saheki T, Ikeda S.
- Journal Title
  
  Clin Neurol Neurosurg.
  
  Volume: 115 Issue: 8 Pages: 1542-1545
- DOI
  10.1016/j.clineuro.2012.12.027
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591516, KAKENHI-PROJECT-25461275
[Journal Article] Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.2013
- Author(s)
  Chen R, Wang XH, Fu HY, Zhang SR, Abudouxikuer K, Saheki T, Wang JS.
- Journal Title
  
  World J Gastroenterol.
  
  Volume: 19 Issue: 28 Pages: 4545-4551
- DOI
  10.3748/wjg.v19.i28.4545
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591516
[Journal Article] AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway2013
- Author(s)
  Llorente-Folch I, Sahun I, Contreras L, Casarejos MJ, Grau JM, Saheki T, Mena MA, Satrustegui J, Dierssen M, Pardo B.
- Journal Title
  
  J Neurochem
  
  Volume: 124 Issue: 3 Pages: 347-362
- DOI
  10.1111/jnc.12096
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500783, KAKENHI-PROJECT-24591516
[Journal Article] Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency2012
- Author(s)
  Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Furuie S, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Yamamura K, Kobayashi K
- Journal Title
  
  Mol Genet Metab
  
  Volume: 107(3) Issue: 3 Pages: 322-9
- DOI
  10.1016/j.ymgme.2012.07.021
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659124, KAKENHI-PROJECT-24590892, KAKENHI-PROJECT-24591516
[Journal Article] Altered postnatal development of cortico-hippocampal neuronal electric activity in mice deficient for the mitochondrial aspartate-glutamate transporter2012
- Author(s)
  Gomez-Galan M, Makarova J, Llorente-Folch I, Saheki T, Pardo B, Satrustegui J, Herreras O
- Journal Title
  
  J Cereb Blood Flow Metab
  
  Volume: 32 Pages: 306-317
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500783
[Journal Article] アミノ酸代謝異常症－シトリン欠損症2012
- Author(s)
  佐伯武頼
- Journal Title
  
  小児内科
  
  Volume: 44 Pages: 1623-1627
- Data Source
  KAKENHI-PROJECT-24591516
[Journal Article] シトリン欠損症2012
- Author(s)
  佐伯武頼
- Journal Title
  
  小児内科
  
  Volume: 44 Pages: 148-149
- NAID
  10024461636
- Data Source
  KAKENHI-PROJECT-24591516
[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) Issue: 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)
  佐伯武頼.
- Journal Title
  
  Mot Genet Metab 100
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390096
[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] 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] 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] 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) Issue: 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 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] 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] Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.2007
- Author(s)
  Takeyori Saheki, et. al.
- Journal Title
  
  J Biol Chem 282
  
  Pages: 25041-25052
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390096
[Journal Article] Citrin/mitochondrial glycerol 3-phosphate dehydrogenase double-knockout mice recapitulate features of human citrin deficiency2007
- Author(s)
  Saheki T, et. al.
- Journal Title
  
  J.Biol.Chem 282
  
  Pages: 25041-25052
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591230
[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] 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] 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] 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] 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] Aversion to sugar-/carbohydrate-rich foods such as sweets and rice. (Japanese)2005
- Author(s)
  Saheki T.
- Journal Title
  
  Kagoshima City Iho 44
  
  Pages: 28-29
- 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)
  Takeyori Saheki, et al.
- Journal Title
  
  Hepatol Res 33 (2)
  
  Pages: 181-184
- Description
  「研究成果報告書概要(和文)」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)
  Takeyori Saheki, et al.
- Journal Title
  
  Hepatol Res 33
  
  Pages: 181-184
- 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] 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] Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier.2005
- Author(s)
  Takeyori Saheki, et al.
- Journal Title
  
  Hepatol Res 33
  
  Pages: 181-184
- Data Source
  KAKENHI-PROJECT-16659281
[Journal Article] 甘いものが嫌い!ご飯が食べられない!2005
- Author(s)
  佐伯武頼
- Journal Title
  
  鹿児島市医報 44
  
  Pages: 28-29
- Description
  「研究成果報告書概要(和文)」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] 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] 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)
  Takeyori Saheki, et al.
- Journal Title
  
  Mol Genet Metab 81
- Data Source
  KAKENHI-PROJECT-16659281
[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] 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] Issues of the present therapies and dietary managements for citrin deficiency. (Japanese)2004
- Author(s)
  Saheki T.
- Journal Title
  
  Bulletin on Special Formula 40
  
  Pages: 5-8
- 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] 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] シトリン欠損症の内科的療法と食事療法は早急な見直しが必要である.2004
- Author(s)
  佐伯武頼
- Journal Title
  
  特殊ミルク情報 40
  
  Pages: 5-8
- 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] シトリン欠損症の内科的療法と食事療法は早急な見直しが必要である2004
- Author(s)
  佐伯武頼
- Journal Title
  
  特殊ミルク情報 40
  
  Pages: 5-8
- 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] 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)
  Takeyori Saheki, et al.
- Journal Title
  
  Mol Genet Metab 81
- Description
  「研究成果報告書概要(和文)」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] カルニチンの生体作用 -カルニチン欠損マウスを用いた解析から-Bio-Function of Carnitine -Consideration from Analysis of Carnitine-Deficient Mice-2004
- Author(s)
  佐伯武頼
- Journal Title
  
  ビタミン 78
  
  Pages: 545-554
- Data Source
  KAKENHI-PROJECT-16590250
[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] カルニチンの生体作用2004
- Author(s)
  佐伯武頼
- Journal Title
  
  ビタミン 78・11
  
  Pages: 545-554
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16590250
[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] 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] An Overview of Citrin Deficiency: A newly established inborn error of metabolism: Pathogenesis, pathophysiology and treatment, Seminar on Citrin Deficiency2017
- Author(s)
  Saheki, T.
- Organizer
  Seminar on Citrin Deficiency
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] To find out Patients with Adult-onset Type II Citrullinemia (CTLN2): Pathogenesis, Pathophysiology, Diagnosis and Treatment -Patients dislike carbohydrate and sweets, and can’t drink alcohol.-2017
- Author(s)
  Saheki, T.
- Organizer
  遺伝性肝疾患学会
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] Pathogenesis, Pathophysiology and Treatment of Citrin Deficiency, -Treatment of Hyperammonemia in Citrin Deficiency with Amino Acids by using the Model, Citrin/mGPD double-KO, Mice-2017
- Author(s)
  Saheki T, Kuroda E, Funahashi A, Yasuda I, Setogawa Y, Gao GH, Ushikai M, Horiuchi M, Moriyama M
- Organizer
  International Congress on Inborn Error of Metabolism (ICIEM) 2017
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] モデルマウスを用いるシトリン欠損症の研究（１）高アンモニア血症マウスの作成2017
- Author(s)
  佐伯武頼、黒田英志、舟橋亞希、安田いづみ、瀬戸川芳子、高青華、古川龍彦、堀内正久、森山光章
- Organizer
  日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] モデルマウスを用いるシトリン欠損症の研究（2）高い治療効果を持つアミノ酸の探索2017
- Author(s)
  佐伯武頼、黒田英志、舟橋亞希、安田いづみ、瀬戸川芳子、高青華、古川龍彦、堀内正久、森山光章
- Organizer
  日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] How to manage Citrin Deficincy -for the patients and their families-2017
- Author(s)
  Saheki, T.
- Organizer
  Seminar on Citrin Deficiency
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] シトリン欠損症に関わって―科学における運命的出会い―2017
- Author(s)
  佐伯武賴
- Organizer
  日本先天代謝異常学会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] Study on Treatment of Citrin Deficiency by using the Animal Model: Effects of Amino acids2017
- Author(s)
  Saheki T, Kuroda E, Funahashi A, Yasuda I, Setogawa Y, Gao GH, Ushikai M, Horiuchi M, Moriyama M
- Organizer
  International Symposium on Precision Medicine and Genetics
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] モデルマウスを用いるシトリン欠損症に有効なアミノ酸の探索2016
- Author(s)
  佐伯武賴、安田いづみ、黒田英志、瀬戸川芳子、森山光章、山村研一、古川龍彦
- Organizer
  第58回日本先天代謝異常学会;第14回アジア先天代謝異常症シンポジウム
- Place of Presentation
  京王プラザホテル（東京都・新宿区）
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] Current State and Treatment of Citrin Deficiency2016
- Author(s)
  Takeyori Saheki
- Organizer
  Basis and Application of Precision Medicine at Quanzhou
- Place of Presentation
  Quanzhou (China)
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] Treatment of Citrin Deficiency: Effect of amino acids on increases in hepatic cytosolic NADH or glycerol 3-phosphate induced by sucrose or ethanol in citrin deficiency model mice2016
- Author(s)
  Takeyori Saheki, Izumi Yasuda, Tatsuhiko Furukawa, Yuki Fujimoto, Sumie Furuie, Ken-ichi Yamamura
- Organizer
  Asia Europe Workshop on Inborn Error of Metabolism
- Place of Presentation
  Seoul, Korea
- Year and Date
  2016-03-30
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] シトリン欠損症におけるアミノ酸の治療効果の解析2016
- Author(s)
  佐伯武賴、藤本侑希、古家澄江、山村研一、安田いづみ、森山光章、古川龍彦
- Organizer
  日本病態栄養学会
- Place of Presentation
  パシフィコ横浜、神奈川県、横浜市
- Year and Date
  2016-01-08
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] An Overview of Citrin Deficiency2016
- Author(s)
  Takeyori Saheki
- Organizer
  Sympsium on Citrin deficiency at Guangzhou
- Place of Presentation
  Guangzhou (China)
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] 滅菌処理した食餌（CE-2）によるシトリン欠損症モデルマウス症状の重症化2016
- Author(s)
  佐伯武賴、黒田英志、安田いづみ、瀬戸川芳子、古川龍彦、森山光章
- Organizer
  第58回日本先天代謝異常学会;第14回アジア先天代謝異常症シンポジウム
- Place of Presentation
  京王プラザホテル（東京都・新宿区）
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] シトリン欠損症モデルマウスにおけるグルコースの毒性2015
- Author(s)
  佐伯武頼、藤本侑希、古家澄江、山村研一、森山光章、古川龍彦
- Organizer
  日本先天代謝異常学会
- Place of Presentation
  大阪府立国際会議場、大阪府、大阪市
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] 成人発症II型シトルリン血症(CTLN2)における発症誘導因子の作用機構解明を目指して2015
- Author(s)
  佐伯武賴、古家澄江、藤本侑希、山村研一
- Organizer
  ビタミンＢ研究委員会
- Place of Presentation
  東大寺ミュージアム、奈良県、奈良市
- Year and Date
  2015-06-04
- Data Source
  KAKENHI-PROJECT-15K09595
[Presentation] 特別講演「シトリン欠損症における特異な食癖とその病因・病態・治療との関連」2014
- Author(s)
  佐伯武頼
- Organizer
  日本栄養改善学会四国支部学術総会
- Place of Presentation
  徳島
- Year and Date
  2014-05-17
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] モデルマウスを用いたシトリン欠損症における糖質毒性の解析2014
- Author(s)
  佐伯　武頼，藤本　侑希，山村　研一，井上　加奈子，小野　裕美
- Organizer
  第１７回日本病態栄養学会年次学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Plasma glycerol was increased parallel to blood ammonia in citrin deficiency model in response to administration of sugars2013
- Author(s)
  Saheki T, Fujimoto Y, Yamamura K
- Organizer
  3rd ACIMD/55th JSIMD
- Place of Presentation
  Maihama, Japan
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Citrin Deficiency: Discovery of the causative gene, analysis of pathophysiology and its clinical aspects.2013
- Author(s)
  Saheki, Takeyori
- Organizer
  3rd ACIMD/55th JSIMD
- Place of Presentation
  Maihama, Japan
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] シトリン欠損症における糖とアミノ酸の代謝異常相関2013
- Author(s)
  佐伯武頼
- Organizer
  日本アミノ酸学会第7回学術大会
- Place of Presentation
  熊本市
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] A possible diagnostic for citrin deficiency; high plasma and urinary glycerol detected in the model, Citrin/ mGPD double-KO mouse2013
- Author(s)
  Fujimoto Y, Yano K, Yamashita K, Rikimaru S, Inoue K, Yamamura K, Saheki T
- Organizer
  3rd ACIMD/55th JSIMD
- Place of Presentation
  Maihama, Japan
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] モデルマウスを用いるシトリン欠損症患者の糖質忌避の機構解析2013
- Author(s)
  佐伯武頼，藤本侑希，古家澄江，山村研一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Studies on Citrin Deficiency and Carnitine Deficiency using Animal Models.2013
- Author(s)
  Saheki, Takeyori
- Organizer
  Conference on Genetic and Metabolic Disease in Fujian
- Place of Presentation
  Fujian, China
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] 鹿児島大学医歯学総合研究科分子病態生化学において解析した尿素サイクル関連異常症例．2012
- Author(s)
  佐伯武頼、古家澄江、山村研一、牛飼美晴、浅川明弘、乾明夫、矢崎正英、池田修一、小林圭子
- Organizer
  第54回日本先天代謝異常学会総会
- Place of Presentation
  岐阜県岐阜市
- Data Source
  KAKENHI-PROJECT-24590892
[Presentation] CTLN2発症に関わる遺伝要因の検索：ミトコンドリアglycerol -3phosphate dehydrogenase．2012
- Author(s)
  佐伯武頼、古家澄江、山村研一、井ノ上逸朗、牛飼美晴、浅川明弘、乾明夫、矢崎正英、池田修一、小林圭子
- Organizer
  第54回日本先天代謝異常学会総会
- Place of Presentation
  岐阜県岐阜市
- Data Source
  KAKENHI-PROJECT-24590892
[Presentation] Citrin Deficiency: Then and Now; A tribute to Dr. Keiko Kobayashi2012
- Author(s)
  Saheki T
- Organizer
  10th Asia-Pacific Conference on Human Genetics (APCHG)
- Place of Presentation
  クアラルンプール(マレーシア)
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Citrin deficiency past, present and future -What is citrin deficiency and what should we do now?-2012
- Author(s)
  Saheki T
- Organizer
  12th Chinese Society of Pediatric Endocrinology and Metabolism Conference (Tongli)
- Place of Presentation
  同里(中国)
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] CTLN2発症に関わる遺伝要因の検索：ミトコンドリアglycerol 3-phosphate dehydrogenase．2012
- Author(s)
  佐伯武頼
- Organizer
  第54回日本先天代謝異常学会総会
- Place of Presentation
  じゅうろくプラザ（岐阜県）
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Citrin Deficiency -one of the most prevalent inherited metabolic diseases in East Asia-2012
- Author(s)
  Saheki T
- Organizer
  Vietnamese Association of Diabetes and Endocrinology
- Place of Presentation
  フエ(ベトナム)
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] 鹿児島大学医歯学総合研究科分子病態生化学において解析した尿素サイクル関連異常症例．2012
- Author(s)
  佐伯武頼
- Organizer
  第54回日本先天代謝異常学会総会
- Place of Presentation
  じゅうろくプラザ（岐阜県）
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Treatment of Citrin Deficiency: Assessment by using an Animal Model.2012
- Author(s)
  Saheki T
- Organizer
  The 2nd Asian Congress on Inherited Metabolic Disease (ACIMD) & the 12th Asia Europe Workshop on Inborn Error of Metabolism (AEWIEM),
- Place of Presentation
  ソウル(韓国)
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[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] シトリン欠損症の発見から治療法開発まで2011
- Author(s)
  佐伯武頼
- Organizer
  第7回近畿先天代謝異常研究会
- Place of Presentation
  ホテルグランヴィア大阪(大阪)(招待講演)
- Year and Date
  2011-06-04
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] 成人発症II型シトルリン血症(CTLN2)の治療法は他の高アンモニア血症治療とはまったく異なる2011
- Author(s)
  佐伯武頼
- Organizer
  JDDW2011
- Place of Presentation
  福岡国際会議場(福岡)
- Year and Date
  2011-10-21
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] 成人発症II型シトルリン血症における糖質等発症誘発因子の作用機構-モデルマウスの解析から2011
- Author(s)
  佐伯武頼
- Organizer
  第47回日本肝臓学会総会
- Place of Presentation
  グランパシフィックLEDAIBA(東京)
- Year and Date
  2011-06-02
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] Overview of citrin deficiency : SLC25A13 mutations and frequency, "Pathophysiology and therapy of citrin deficiency judging from analysis of the model mice"2011
- Author(s)
  Takeyori Saheki
- Organizer
  AASPP-Seminar on Citrin Deficiency in Chengdu
- Place of Presentation
  成都(中国)
- Year and Date
  2011-06-07
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] Citrin deficiency : Pathophysiology, treatment and mouse model2011
- Author(s)
  T. Saheki
- Organizer
  9th International Conference on Amino Acids, Peptides and Proteins
- Place of Presentation
  北京(中国)
- Year and Date
  2011-08-03
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] シトリン欠損症の研究(1)モデルマウス肝病態のメタボローム解析2011
- Author(s)
  佐伯武頼
- Organizer
  第53回日本先天代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張(千葉)
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] シトリン欠損症の研究(2)マウスモデルを用いる治療法の開発2011
- Author(s)
  佐伯武頼
- Organizer
  第53回日本先天代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張(千葉)
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591337
[Presentation] Reminiscence of Professor Keiko Kobayashi : Discovery of citrin deficiency2011
- Author(s)
  Takeyori Saheki
- Organizer
  International Symposium on Citrin Deficiency at Matsumoto
- 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] モデルマウスを用いたシトリン欠損症の肝代謝病態とピルビン酸ナトリウムの治療効果2011
- Author(s)
  佐伯武頼
- Organizer
  第58回日本実験動物学会総会
- Place of Presentation
  タワーホール船堀(東京)
- Year and Date
  2011-05-27
- 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)
  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] シトリン欠損症モデルマウス肝臓における病態マーカーの検索2009
- Author(s)
  佐伯武頼, et al.
- Organizer
  第56回日本実験動物学会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-19390096
[Presentation] シトリン欠損症モデルマウスは何を嫌い、その強制摂取は肝内に何を起こすか2009
- Author(s)
  佐伯武頼, et al.
- Organizer
  第51回日本先天代謝異常学会・第8回アジア先天代謝異常症シンポジウム
- Place of Presentation
  東京
- 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] 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, 他
- 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
  米子コンベンションセンター(米子市)
- 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] Hyperammonemia in a mouse model of citrin deficiency.2008
- Author(s)
  Takeyori Saheki, 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] 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] 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] 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] 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] ヒトシトリン欠損症モデルマウス肝臓における遺伝子発現変化.2007
- Author(s)
  佐伯武頼, 他
- Organizer
  第24回日本疾患モデル学会
- Place of Presentation
  つくば
- 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] ヒト白麟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, 他
- Organizer
  日本先天代謝異常学会
- Place of Presentation
  山形市
- Year and Date
  2007-11-15
- Data Source
  KAKENHI-PROJECT-19591230
[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] 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] シトリン欠損症の病態解析と治療法の開発－ピルビン酸ナトリウムの効果－
- Author(s)
  佐伯武頼
- Organizer
  ビタミンＢ研究協議会
- Place of Presentation
  湘南国際村センター（神奈川県）
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] シトリン欠損症の病態解析と治療法の開発：現在の課題
- Author(s)
  佐伯武頼、藤本侑希、古家澄江、山村研一
- Organizer
  第56回日本先天代謝異常学会・第12回アジア先天代謝異常症シンポジウム
- Place of Presentation
  仙台
- Year and Date
  2014-11-13 – 2014-11-15
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Increased hepatic glycerol synthesis in citrin deficiency model mouse.
- Author(s)
  Moriyama M, Ushikai M, Kuroda E, Inui A, Takano K, Nakamura Y, Saheki T.
- Organizer
  3rd ACIMD/55th JSIMD
- Place of Presentation
  千葉県浦安市舞浜
- Data Source
  KAKENHI-PROJECT-24590892
[Presentation] Prenary session, History and fundamental basis of the pathophysiology, International Symposium on Citrin Deficiency,
- Author(s)
  Takeyori Saheki
- Organizer
  International Symposium on Citrin Deficiency
- Place of Presentation
  中国（広州）
- Year and Date
  2014-06-06 – 2014-06-08
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Metabolic basis of carbohydrate toxicity in citrin, liver-type mitochondrial aspartate glutamate carrier, deficiency
- Author(s)
  Saheki T, Fujimoto Y, Furuie S, Yamamura K,
- Organizer
  Asia Europe Workshop on Inborn Erroｒ of Metabolism (AEWIEM) 2015
- Place of Presentation
  エジプト（カイロ）
- Year and Date
  2015-01-18 – 2015-01-19
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Advances in Diagnosis and Treatment of Citrin Deficiency
- Author(s)
  Takeyori Saheki
- Organizer
  International Conference on Neonatal Nutrition Support and Inherited Metabolic Disease Screening
- Place of Presentation
  中国（広州）
- Year and Date
  2014-10-11 – 2014-10-12
- Invited
- Data Source
  KAKENHI-PROJECT-24591516
[Presentation] Pathophysiology of citrin deficiency and current progress on its treatment
- Author(s)
  Takeyori Saheki, Yuki Fujimoto, Sumie Furuie, Ken-ichi Yamamura, Masahide Yazaki, Shu-ichi Ikeda
- Organizer
  Asia Conference on Inhertited Metabolic Disease (ACIMD) 2015
- Place of Presentation
  台湾（台北）
- Year and Date
  2015-03-20 – 2015-03-21
- Invited
- Data Source
  KAKENHI-PROJECT-24591516

1. KOBAYASHI Keiko (70108869)

# of Collaborated Projects: 20 results

# of Collaborated Products: 172 results
2. HORIUCHI Masahisa (50264403)

# of Collaborated Projects: 7 results

# of Collaborated Products: 2 results
3. IIJIMA Mikio (00305111)

# of Collaborated Projects: 6 results

# of Collaborated Products: 17 results
4. USHIKAI Miharu (70232816)

# of Collaborated Projects: 4 results

# of Collaborated Products: 4 results
5. OKANO Yoshiyuki (60231213)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
6. YOSHIDA GOICHIRO (10274870)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
7. NAKAGAWA Shiro (70073666)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
8. MIYAZAKI Jyunnichi (10200156)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
9. MORITA Takashi (70150349)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
10. YOSHITAKE Yutaka (00136334)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
11. 森正敬 (40009650)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
12. 薮内百治 (20028335)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
13. NODA Takashi (60136231)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
14. ARAKAWA Hiroyuki (40212617)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
15. TOMOMURA Mineko (30217559)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
16. URAMOTO Hiroyuki (50253860)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
17. 杉村和久 (80127240)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
18. 櫻田恵右 (80002161)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
19. 荻田善一 (40109111)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
20. 服巻保幸 (90128083)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
21. 松田一郎 (10000986)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
22. 北川照男 (50058765)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
23. 三輪史朗 (40034954)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
24. 多田啓也 (20046907)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
25. 折居忠夫 (20045339)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
26. 安田いづみ (10305112)

# of Collaborated Projects: 2 results

# of Collaborated Products: 8 results
27. ASOU Kazuyoshi

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
28. KUHARA Tomiko (30080568)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
29. AKIHIRO Asakawa (10452947)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
30. YAMAMURA Ken-ichi (90115197)

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
31. OSHIMURA Mitsuo (20111619)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
32. TOKUHARA Daisuke (60448751)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
33. YATA Toshihiko (60166527)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
34. OSAME Mitsuhiro (10041435)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
35. KAMEYAMA Maski (60150059)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
36. 東市郎 (50028411)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
37. 廣瀬伸一 (60248515)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
38. 佐藤茂秋 (00076994)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
39. 帯刀益夫 (10099971)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
40. 井ノ上逸朗 (00192500)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
41. 矢崎正英 (70372513)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
42. 森山光章 (20275283)

# of Collaborated Projects: 1 results

# of Collaborated Products: 10 results
43. KUDOU Satoshi

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
44. KAWAJIRI Mie

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
45. TSURUHARA Akifumi

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
46. FUNAHASHI Aki

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
47. KURODA Eishi

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
48. SETOGAWA Yoshiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
49. HONDA Akira

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
50. 乾明夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

SAHEKI Takeyori 佐伯 武頼

Research Projects

Research Products

Co-Researchers

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Genetic and environmental factors related to onset and severity of CTLN2 in citrin deficiencyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

To developtherapeutic and prophylactic procedures for citrin deficiencyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Toxicity of sugars and identification of markers for pathophysiology in citrin deficiency leading to development of novel therapeuticsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathophysiological analysis and development of therapeutic procedures for citrin deficiency by using a mouse modelPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

SAHEKI Takeyori 佐伯武頼