YAMAGUCHI Seiji 山口清次

Researcher Number	60144044
Other IDs
External Links
Affiliation (Current)	2021: 島根大学, 学術研究院医学・看護学系, 特任教授
Affiliation (based on the past Project Information) *help	2018 – 2019: 島根大学, 学術研究院医学・看護学系, 特任教授 2016 – 2017: 島根大学, 医学部, 特任教授 2010 – 2015: 島根大学, 医学部, 教授 2003 – 2008: Shimane University, Faculty of Medicine, Professor, 医学部, 教授 1993 – 2002: 島根医科大学, 医学部, 教授 … More
Review Section/Research Field	Principal Investigator Pediatrics / Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics / Pediatrics / Integrated Nutrition Science
Keywords	Principal Investigator MS / 有機酸代謝異常症 / 先天代謝異常 / GC / 脂肪酸代謝異常 / 質量分析 / 遺伝子解析 / タンデムマス / 有機酸代謝異常 / 急性脳症 … More Except Principal Investigator SLC25A13 / NICCD / 脳症 / 小児 / 診断 / 予後 / 多施設共同研究 / 急性脳症 / 小児期 / 早期診断 / 予後予測 / 脳炎 / 熱性けいれん / 異常行動 / 熱性けいんれん / 遺伝性代謝異常症 / ムコ多糖症 / マススクリーニング / DMB法 / 尿中ムコ多糖 / マススクリ-ニング / Inherited Metabolic Disease / Mucopolysaccharidosis / Mass Screening / DMB Method / Urinary Mucopolysaccharide / 小児期からのコホートスタディー / 日米共同比較研究 / 心血管系成人病リスクファクター / 血圧 / 年齢性別血清総コレステロール / 身体計測値 / 皮下脂肪厚 / 血清コレステロール / Cohort Study / US-Japan Collaborative Study / Risk Factor in Childhood / Blood Pressure / Cholesterol / Anthropometry / Skin Fold / グルタル酸尿症2型 / 電子伝達フラビンタンパク / 脂肪酸ミトコンドリアβ酸化異常症 / 有機酸代謝異常症 / glutaric aciduria type 2 / Electron transfer flavoprotein / mitochondrial fatty acid beta oxidation / organic academia / 脂肪酸β酸化異常 / 遊離脂肪酸分析 / 3ヒドロキシ脂肪酸分析 / 脂肪酸β酸化異常症 / 3-ヒドロキシ脂肪酸分析 / fatty acid beta oxidation disorders / free fatty acid analysis / 3-hydroxyfatty acid analysis / シトリン / シトルリン血症 / 新生児スクリーニング / 新生児肝内胆汁うっ滞 / CTLN2 / 低炭水化物食 / citrin / citrullinemia / Newborn screening / neonatal intrahepatic cholestasis / ペルオキシゾ-ム病 / スクリ-ニング / 極長鎖脂肪酸 / ジカルボン酸 / ペルオキシソ-ム病 / ペルオキシソーム病 / スクリーニング / 有機酸分析 / 極長鎖脂肪酸分析 / Peroxisomal disease / Screening / Very-long-chain fatty acid / Dicarboxylic acid / 栄養科学 / 脂肪酸β酸化系 / 臓器特異性 Less

Study of diversity in organic and fatty acid disorders in AsiaPrincipal InvestigatorOngoing
- Principal Investigator
  
  山口清次
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shimane University
Study of pathophysiology of acute encephalopathy in childhood due to fatty acid oxidation disturbance and development of new treatmentsPrincipal Investigator
- Principal Investigator
  
  Yamaguchi Seiji
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
The basic investigation on the organ differences of fatty acid beta-oxidation system
- Principal Investigator
  
  USUDA Nobuteru
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Integrated Nutrition Science
- Research Institution
  Fujita Health University
Development of a method to evaluate the fatty acid oxidation impairment by infection using cultured cells and tandem mass spectrometry, in childrenPrincipal Investigator
- Principal Investigator
  
  SEIJI Yamaguchi
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
Study on relation between acute encephalopathy in childhood and causative disorders of organic and fatty acid metabolismPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  2010 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
Development of evaluation method of drug safety for children using cultured cells and tandem mass spectrometryPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
A multicenter study on early diagnosis and prognostic prediction of acute encephalopathy in childhood
- Principal Investigator
  
  KUSUHARA Koichi
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  University of Occupational and Environmental Health, Japan
Fast-GC/MSを導入した迅速、高感度、高精度の代謝異常診断システムの開発Principal Investigator
- Principal Investigator
  
  山口清次
- Project Period (FY)
  2006 – 2008
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
Strategy for prevention of development of CTLN2 in patients with citrin deficiency
- Principal Investigator
  
  OHURA Toshihiro
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Study of metabolic screening, diagnosis, evaluation of treatment, and molecular analysis for organic and fatty acid disordersPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  2005 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
タンデム型質量分析法を用いたリピドーシス診断の検討Principal Investigator
- Principal Investigator
  
  山口清次
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
Screening for mitochondrial fatty acid beta oxidation disorders using blood spots and cultured fibroblast by GC/MS
- Principal Investigator
  
  KIMURA Masahiko
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
  Shimane Medical University
飛行時間型質量分析(DE MALDI TOF/MS)のリピドーシス診断への応用Principal Investigator
- Principal Investigator
  
  山口清次
- Project Period (FY)
  2002 – 2003
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Clinical and molecular study on Japanese patients with mitochondrial β-oxidation disordersPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  2001 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University, Faculty of Medicine
Study on biochemical and molecular evoluation for mitochondrial β-oxidation defectsPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1998 – 2000
- Research Category
  
  Grant-in-Aid for Scientific Research (B).
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Preliminary studies on neonatal mass screening for organic acidemias using GC/MSPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1998 – 2000
- Research Category
  
  Grant-in-Aid for Scientific Research (B).
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Glutaric aciduria type 2 : Diagnostic methods and molecular pathogenesis
- Principal Investigator
  
  KIMURA Masahiko
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Development of a system for early diagnosis and molecular analysis of mitochondrial and peroxisomal fatty acid beta-oxidation defects in Japan.Principal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1996 – 1997
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Development of automated GC/MS data profiling and disease-detection sytems for organic acidemia screening.Principal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1995 – 1996
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Study of early detection of patients with inherited metabolic disorders characterized clinically by severe ketoacidosis.Principal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1995 – 1996
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Studies on clinical and molecular heterogeneity in beta-ketothiolase deficiency.Principal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1993 – 1994
- Research Category
  
  Grant-in-Aid for General Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Us-Japan collaborative cohort study on cardiovascular risk factor in childhood
- Principal Investigator
  
  HANEDA Noriyuki
- Project Period (FY)
  1993 – 1994
- Research Category
  
  Grant-in-Aid for General Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane Medical University
Mass Screening Procedure for Mucopolysaccharidoses using urine specimens on paper
- Principal Investigator
  
  ORII Tadao
- Project Period (FY)
  1991 – 1993
- Research Category
  
  Grant-in-Aid for Developmental Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Gifu University
Molecular studies on beta-ketothiolase deficiencyPrincipal Investigator
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  1989 – 1990
- Research Category
  
  Grant-in-Aid for General Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Department of pediatrics, Gifu University School of Medicine
Development of Screening System for Peroxisomal Disorders Using Dried Spotted Blood and Urine
- Principal Investigator
  
  ORII Tadao
- Project Period (FY)
  1988 – 1990
- Research Category
  
  Grant-in-Aid for Developmental Scientific Research (B).
- Research Field
  
  Pediatrics
- Research Institution
  Gifu University

[Book] よくわかる新生児マススクリーニングガイドブック2019
- Author(s)
  山口清次（編著）
- Total Pages
  150
- Publisher
  診断と治療社
- ISBN
  9784787823892
- Data Source
  KAKENHI-PROJECT-19K08347
[Book] 医用質量分析学テキスト2019
- Author(s)
  丹羽利充、中西豊文（山口清次、分担執筆）
- Total Pages
  120
- Publisher
  診断と治療社
- ISBN
  9784787824189
- Data Source
  KAKENHI-PROJECT-19K08347
[Book] 別冊日本臨床　新領域別症候群シリーズ　No.29　神経症候群（第2版）Ⅲ　-その他の神経疾患を含めて-　/　Ⅶ　先天代謝異常　/ミトコンドリア脂肪酸β酸化異常症2014
- Author(s)
  山口清次
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-24659498
[Book] 別冊日本臨床　新領域別症候群シリーズ　No.29　神経症候群（第2版）Ⅲ　-その他の神経疾患を含めて-　/　Ⅶ　先天代謝異常　/ 有機酸代謝異常2014
- Author(s)
  山口清次
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-24659498
[Book] タンデムマス・スクリーニングガイドブック2013
- Author(s)
  山口清次（編）
- Total Pages
  151
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-24659498
[Book] タンデムマス・スクリーニングガイドブック2013
- Author(s)
  山口清次
- Total Pages
  151
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-22390208
[Book] タンデムマス・スクリーニングガイドブック2013
- Author(s)
  山口清次（編）
- Total Pages
  151
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-22390208
[Book] 別冊日本臨床　新領域別症候群シリーズ　No.19 先天代謝異常症候群 (第2版）上　－病因・病態研究, 診断・治療の進歩―：　ミトコンドリア脂肪酸β酸化異常症：概論2012
- Author(s)
  山口清次
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-22390208
[Book] 別冊日本臨床　新領域別症候群シリーズ　No.19 先天代謝異常症候群 (第2版）上　－病因・病態研究, 診断・治療の進歩―：　有機酸代謝異常: 概論2012
- Author(s)
  山口清次
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-22390208
[Book] 最新ガイドライン準拠　小児科　診断・治療指針：　10章　先天代謝異常・代謝疾患　新生児マススクリーニングの現在と未来2012
- Author(s)
  山口清次
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-22390208
[Book] 有機酸代謝異常ガイドブックGC/MSデータの読みかた・活かしかた2011
- Author(s)
  山口清次(編)
- Total Pages
  195
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-22390208
[Book] 有機酸代謝異常ガイドブックGC/MSデータの読みかた・活かしかた2011
- Author(s)
  山口清次(編)
- Total Pages
  195
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-22659195
[Book] 有機酸代謝異常ガイドブックGC/MSデータの読みかた・活かしかた2011
- Author(s)
  山口清次
- Total Pages
  195
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-22659195
[Book] 小児臨床ピクシス23見逃せない先天代謝異常1章まずは診断しなくては「新生児マススクリーニングで異常になったとき」2010
- Author(s)
  山口清次
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-22390208
[Book] よくわかる病態生理15小児疾患 : 新生児黄疸2008
- Author(s)
  松尾理監, 鈴木康之編, 山口清次
- Total Pages
  285
- Publisher
  日本医事新報社
- Data Source
  KAKENHI-PROJECT-18659303
[Book] 小児臨床検査ガイド : 代謝学検査 : 有機酸2006
- Author(s)
  山口清次
- Publisher
  文光堂
- Data Source
  KAKENHI-PROJECT-17390302
[Book] 標準小児科学第6版 : 先天代謝異常2006
- Author(s)
  山口清次
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18659303
[Book] 今日の小児治療指針第14版 : ミトコンドリアβ酸化異常症2006
- Author(s)
  山口清次
- Total Pages
  169
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18659303
[Book] 小児臨床検査ガイド : 代謝学検査 : 有機酸2006
- Author(s)
  山口清次
- Publisher
  文光堂
- Data Source
  KAKENHI-PROJECT-18659303
[Book] 標準小児科学第6版 : 先天代謝異常2006
- Author(s)
  山口清次
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-17390302
[Book] 今日の小児治療指針第14版 : ミトコンドリアβ酸化異常症2006
- Author(s)
  山口清次
- Total Pages
  169
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] Medical mass spectrometrist (MMS) training and certification: A key step to expanding routine clinical mass spectrometry usage in Japan2019
- Author(s)
  7) Fumio Nomura, Toyofumi Nakanishi, Kazuo Igarashi, Seiji Yamaguchi, Mitsutoshi Setou, Toshimitsu Niwa
- Journal Title
  
  Clinical Mass Spectrometry 15: 13-15, 2019 (Nov) https
  
  Volume: 15 Pages: 13-15
- DOI
  10.1016/j.clinms.2019.11.001
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08347
[Journal Article] The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age2019
- Author(s)
  Tay Zar Kyaw, Seiji Yamaguchi S, Imai C, Uematsu M, Sato N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Pages: 795-801
- DOI
  10.1038/s10038-019-0621-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08347, KAKENHI-PROJECT-17K10174
[Journal Article] Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency.2019
- Author(s)
  Elsayed Abdelkreem, Rajesh K. Harijan, Seiji Yamaguchi, Rikkert K. Wierenga, Toshiyuki Fukao
- Journal Title
  
  Hum Mut
  
  Volume: 2019 Pages: 1-23
- DOI
  10.1002/humu.23831
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08347
[Journal Article] 自治体事業として行われている「新生児マススクリーニング」の全国ネットワーク化2019
- Author(s)
  山口清次、但馬剛、森岡久尚、鶴田憲一
- Journal Title
  
  公衆衛生情報 49 (6):　10-12, 2019
  
  Volume: 49 Pages: 10-12
- Data Source
  KAKENHI-PROJECT-19K08347
[Journal Article] Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby2019
- Author(s)
  Yamada Kenji、Matsubara Keiichi、Matsubara Yuko、Watanabe Asami、Kawakami Sanae、Ochi Fumihiro、Kuwabara Kozue、Mushimoto Yuichi、Kobayashi Hironori、Hasegawa Yuki、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  JIMDRep
  
  Volume: 49 Pages: 17-20
- DOI
  10.1002/jmd2.12061
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after L-carnitine supplementation2018
- Author(s)
  Watanabe Kenji、Yamada Kenji、Sameshima Koji、Yamaguchi Seiji
- Journal Title
  
  Mol Genet Met Rep
  
  Volume: 15 Pages: 121-123
- DOI
  10.1016/j.ymgmr.2018.03.007
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K21179
[Journal Article] Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: selective screening vs. expanded newborn screening2018
- Author(s)
  Shibata Naoaki、Hasegawa Yuki、Yamada Kenji、Kobayashi Hironori、Purevsuren Jamiyan、Yang Yanling、Dung Vu Chi、Khanh Nguyen Ngoc、Verma Ishwar C.、Bijarnia-Mahay Sunita、Lee Dong Hwan、Niu Dau-Ming、Hoffmann Georg F.、Shigematsu Yosuke、Fukao Toshiyuki、Fukuda Seiji、Taketani Takeshi、Yamaguchi Seiji
- Journal Title
  
  Mol Genet Met Rep
  
  Volume: 16 Pages: 5-10
- DOI
  10.1016/j.ymgmr.2018.05.003
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-15K09593
[Journal Article] Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan2018
- Author(s)
  Yamada K, Shiraishi H, Oki E, Ishige M, Fukao T, Hamada Y, Sakai N, Ochi F, Watanabe A, Kawakami S, Kuzume K, Watanabe K, Sameshima K, Nakamagoe K, Tamaoka A, Asahina N, Yokoshiki S, Miyakoshi T, Ono K, Oba K, Isoe T, Hayashi H, Yamaguchi S, Sato N
- Journal Title
  
  Mol Genet Met Rep
  
  Volume: 15 Pages: 55-63
- DOI
  10.1016/j.ymgmr.2018.02.003
- NAID
  120006491518
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-17K10072, KAKENHI-PROJECT-15K09593
[Journal Article] Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases2017
- Author(s)
  Bo Ryosuke、Yamada Kenji、Kobayashi Hironori、Jamiyan Purevsuren、Hasegawa Yuki、Taketani Takeshi、Fukuda Seiji、Hata Ikue、Niida Yo、Shigematsu Yosuke、Iijima Kazumoto、Yamaguchi Seiji
- Journal Title
  
  J Hum Genet
  
  Volume: 62 Pages: 809-814
- DOI
  10.1038/jhg.2017.52
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K08980, KAKENHI-PROJECT-16K21179
[Journal Article] タンデムマス法を導入した新生児マススクリーニングの新しい体制2017
- Author(s)
  山口清次
- Journal Title
  
  日本医事新報
  
  Volume: 4838 Pages: 26-34
- Data Source
  KAKENHI-PROJECT-15K09593
[Journal Article] Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity2017
- Author(s)
  Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasaio H, Fukaoo T, Fujikip R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagis M, Hata I, Shigematsu Y, Kobayashi M
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 122 Pages: 67-75
- DOI
  10.1016/j.ymgme.2017.07.011
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
[Journal Article] A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth2017
- Author(s)
  Yamada Kenji、Bo Ryosuke、Kobayashi Hironori、Hasegawa Yuki、Ago Mako、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 11 Pages: 59-61
- DOI
  10.1016/j.ymgmr.2017.04.008
- NAID
  120006373818
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K21179
[Journal Article] Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay2017
- Author(s)
  Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi
- Journal Title
  
  Brain and Development
  
  Volume: 39 Pages: 48-27
- DOI
  10.1016/j.braindev.2016.08.004
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-15K09593
[Journal Article] A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.2016
- Author(s)
  7) Yamamoto F, Nakamagoe K, Yamada K, Ishii A, Furuta J, Yamaguchi S, Tamai A
- Journal Title
  
  J Neurol Sci.
  
  Volume: 368 Pages: 165-167
- DOI
  10.1016/j.jns.2016.07.007
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-26460901
[Journal Article] Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases2016
- Author(s)
  Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, Watanabe M, Tsunemi T, Mizusawa H, Takuma H, Shioya A, Ishii A, Tamaoka A, Shigematsu Y, Sugie H, Yamaguchi S.
- Journal Title
  
  Brain & Development
  
  Volume: 38 Pages: 293301-293301
- DOI
  10.1016/j.braindev.2015.08.011
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25461652, KAKENHI-PROJECT-25461266, KAKENHI-PROJECT-26870379, KAKENHI-PROJECT-15K09593
[Journal Article] The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism2016
- Author(s)
  Purevsuren J, Bolorma　B, Narantsetseg C, Batsolongo R, Enkhchimeg O, Bayalag M, Hasegawa Y, Shintaku H, Yamaguchi S
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 9 Pages: 71-74
- DOI
  10.1016/j.ymgmr.2016.10.008
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Journal Article] Clinical Features of Carnitine Deficiency Secondary to Pivalate-Conjugated Antibiotic Therapy.2016
- Author(s)
  Kobayashi H, Fukuda S, Yamada K, Hasegawa Y, Takahashi T, Purevsuren J, Yamaguchi S
- Journal Title
  
  The Journal of Pediatrics
  
  Volume: April Pages: 183-187
- DOI
  10.1016/j.jpeds.2016.02.080
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461552, KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis2016
- Author(s)
  Bo R, Hasegawa Y, Yamada K, Kobayashi H, Taketani T, Fukuda S, Yamaguchi S
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 6 Pages: 1-4
- DOI
  10.1016/j.ymgmr.2015.11.005
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26870379, KAKENHI-PROJECT-15K09593
[Journal Article] Acute myositis associated with concurrent infection of rotavirus and norovirus in a 2-year-old girl2015
- Author(s)
  Yamamoto K, Fukuda S, Mushimoto Y, Minami N, Kanai R, Tsukamoto K, Yamaguchi S
- Journal Title
  
  Pediatric Reports
  
  Volume: 7 Pages: 51-53
- DOI
  10.4081/pr.2015.5873
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593
[Journal Article] Clinical and genetic investigation of 17 Japanese patients with hyperekplexia2015
- Author(s)
  Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, Nanishi E, Ono M, Yokoyama A, Arai H, Tamaura S, Suzuki Y, Otsubo S, Hayashi T, Kimura M, Kishi K, Yamaguchi S
- Journal Title
  
  Developmental Medicine & Child Neurology
  
  Volume: 57 Pages: 372-377
- DOI
  10.1111/dmcn.12617
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] Elevation of pivaloylcarnitine by sivelestat sodium in two children2015
- Author(s)
  Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa T, Nakamura M, Ishige N, Yamaguchi S
- Journal Title
  
  Mol Genet Metab. 2015 Nov;116(3):192-4
  
  Volume: 116 Pages: 192-194
- DOI
  10.1016/j.ymgme.2015.09.009
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-25461552, KAKENHI-PROJECT-26870379
[Journal Article] ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.2015
- Author(s)
  Sakai C, Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto YI
- Journal Title
  
  Hum Mutat
  
  Volume: 36 Pages: 232-239
- DOI
  10.1002/humu.22730
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24659498, KAKENHI-PROJECT-25670275, KAKENHI-PROJECT-25253041
[Journal Article] Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.2015
- Author(s)
  Yamada K, Aiba K, Kitaura Y, Kondo Y, Nomura N, Nakamura Y, Fukushi D, Murayama K, Shimomura Y, Pitt J, Yamaguchi S, Yokochi K, Wakamatsu N
- Journal Title
  
  J Med Genet
  
  Volume: 52 Pages: 691-698
- DOI
  10.1136/jmedgenet-2015-103231
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-15K09610, KAKENHI-PROJECT-26462225, KAKENHI-PROJECT-25461576
[Journal Article] Carnitine-acylcarnitine translocase deficiency: two neonatal cases with common splicing mutation and in vitro bezafibrate response2015
- Author(s)
  Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyoe P, Sathienkijkanchai A, Yamaguchi S, Wasant P
- Journal Title
  
  Brain and Development
  
  Volume: - Pages: 698-703
- DOI
  10.1016/j.braindev.2014.10.005
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24659498, KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-26870379
[Journal Article] Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.2015
- Author(s)
  Kobayashi T, Minami S, Mitani A, Tanizaki Y, Booka M, Okutani T, Yamaguchi S, Ino K
- Journal Title
  
  J Obstet Gynaecol Res.
  
  Volume: 41 Pages: 799-802
- DOI
  10.1111/jog.12609
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24659498, KAKENHI-PROJECT-26861338
[Journal Article] タンデムマスを導入した新生児マススクリーニングの社会的意義と課題2014
- Author(s)
  山口清次
- Journal Title
  
  公衆衛生情報
  
  Volume: 44 Pages: 5-8
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] 小児栄養性ビタミン欠乏症の有機酸分析による診断-ビタミンB1欠乏症、ビタミンB12欠乏症、ビオチン欠乏症2014
- Author(s)
  山口清次, 長谷川有紀
- Journal Title
  
  小児科臨床
  
  Volume: 67 Pages: 787-794
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] Functional Analysis of iPS-derived Myocytes from a Patient with Carnitine Palmitoyltransferase Deficiency2014
- Author(s)
  Tetsuhiko Yasuno, Kenji Osafune, Hidetoshi Sakurai, Isao Asaka, Akihito Tanaka, Seiji Yamaguchi, Kenji Yamada, Hirofumi Hitomi, Sayaka Arai, Yuko Kurose, Yasuki Higaki, Mizuki Sudo, Souichi Ando, Hitoshi Nakashima, Takao Saito, Hidetoshi Kaneoka
- Journal Title
  
  Biochemical and Biophysical Research Communications
  
  Volume: (in press) Pages: 175-181
- DOI
  10.1016/j.bbrc.2014.04.084
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-23791200, KAKENHI-PROJECT-24591204, KAKENHI-PROJECT-24659498, KAKENHI-PROJECT-25870995
[Journal Article] MS解析による代謝障害の診断2013
- Author(s)
  山口清次
- Journal Title
  
  分子消化器病
  
  Volume: 10 Pages: 72-78
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Intracellular in vitro acylcarnitine cylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-12013
- Author(s)
  Purevsuren J
- Journal Title
  
  Anal Bioanal Chem
  
  Volume: 405 Pages: 1345-1351
- DOI
  10.1007/s00216-012-6532-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10F00430, KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-23791176, KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-24659498, KAKENHI-PUBLICLY-24114507
[Journal Article] 成人後に診断された有機酸・脂肪酸代謝異常症の臨床的検討2013
- Author(s)
  山田健治, 山口清次 (8/8), 他
- Journal Title
  
  臨床神経学
  
  Volume: 53 Pages: 191-195
- NAID
  130004724947
- URL
  https://www.jstage.jst.go.jp/article/clinicalneurol/53/3/53_191/_article/-char/ja/
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 小児科領域におけるタンデムマスとGC/MSの臨床応用：最近の進歩2013
- Author(s)
  山口清次
- Journal Title
  
  臨床病理
  
  Volume: 61 Pages: 817-824
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新生児マススクリーニングで発見された軽症型プロピオン酸血症:　有機酸とアシルカルニチンの推移2013
- Author(s)
  高橋知男, 山田健治, 虫本雄一, 小林弘典, 長谷川有紀, ジャミヤン・プレブスレン, 坂本修, 大浦敏博, 山口清次
- Journal Title
  
  日本マス･スクリーニング学会誌
  
  Volume: 23 Pages: 49-53
- NAID
  10031183091
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新生児スクリーニングの新時代 ; タンデムマス法の導入2013
- Author(s)
  山口清次
- Journal Title
  
  日本周産期・新生児医学会雑誌
  
  Volume: 48 Pages: 827-829
- NAID
  10031154087
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] 新生児スクリーニングの新時代 ; タンデムマス法の導入2013
- Author(s)
  山口清次
- Journal Title
  
  日本周産期・新生児医学会雑誌
  
  Volume: 48 Pages: 827-829
- NAID
  10031154087
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新生児マススクリーニングで発見された軽症型プロピオン酸血症:　有機酸とアシルカルニチンの推移2013
- Author(s)
  高橋知男, 山田健治, 虫本雄一, 小林弘典, 長谷川有紀, ジャミヤン・プレブスレン, 坂本修, 大浦敏博, 山口清次
- Journal Title
  
  日本マス･スクリーニング学会誌
  
  Volume: 23 Pages: 49-53
- NAID
  10031183091
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] 新生児スクリーニングの新時代 : タンデムマス法の導入2013
- Author(s)
  山口清次
- Journal Title
  
  日本周産期・新生児医学会雑誌
  
  Volume: 48 Pages: 827-829
- NAID
  10031154087
- URL
  http://mol.medicalonline.jp/library/journal/download?GoodsID=dy1jspnm/2013/004804/023&name=0827-0829j&UserID=202.250.215.249&base=jamas_pdf
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan2013
- Author(s)
  Yamaguchi S, Purevusren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Yamada K, Takahashi T, Furui M, Taketani T, Fukuda S, Fukao T, Shigematsu Y
- Journal Title
  
  日本マス・スクリーニング学会誌
  
  Volume: 23 Pages: 270-276
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] 小児科領域におけるタンデムマスとGC/MSの臨床応用：最近の進歩2013
- Author(s)
  山口清次
- Journal Title
  
  臨床病理
  
  Volume: 61 Pages: 817-824
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] タンデムマスを用いた新生児マススクリーニングによる先天代謝異常症の早期診断2013
- Author(s)
  山口清次
- Journal Title
  
  小児科臨床
  
  Volume: 66 Pages: 193-198
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新生児マススクリーニングの新たな展開　タンデムマス法の導入2012
- Author(s)
  山口清次
- Journal Title
  
  公衆衛生
  
  Volume: 76 Pages: 853-857
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] GC/MS有機酸分析で発見される小児の後天性ビタミン欠乏症:ビタミンB1欠乏症とビオチン欠乏症2012
- Author(s)
  山口清次
- Journal Title
  
  ビタミン
  
  Volume: 86 Pages: 32-36
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] GC/MS有機酸分析で発見される小児の後天性ビタミン欠乏症:ビタミンB1欠乏症とビオチン欠乏症2012
- Author(s)
  山口清次
- Journal Title
  
  ビタミン
  
  Volume: 86 Pages: 32-36
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] メチルマロン酸血症2012
- Author(s)
  山口清次
- Journal Title
  
  小児内科
  
  Volume: 44 Pages: 164-165
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新しい新生児マススクリーニング: タンデムマス法について2012
- Author(s)
  山口清次
- Journal Title
  
  臨床検査
  
  Volume: 56 Pages: 770-776
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新しい新生児マススクリーニング: タンデムマス法について2012
- Author(s)
  山口清次
- Journal Title
  
  臨床検査
  
  Volume: 56 Pages: 770-776
- Data Source
  KAKENHI-PROJECT-24659498
[Journal Article] Clinical and Molecular Aspects of Japanese Children with Medium Chain Acyl-CoA Dehydrogenase Deficiency2012
- Author(s)
  Purevsuren J, Fukao T (8/9), Yamaguchi S (9/9), et al
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 107 Pages: 237-240
- DOI
  10.1016/j.ymgme.2012.06.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-24659498, KAKENHI-PUBLICLY-24114507
[Journal Article] GC/MS有機酸分析で発見される小児の後天性ビタミン欠乏症:ビタミンB1欠乏症とビオチン欠乏症2012
- Author(s)
  山口清次, 長谷川有紀, 虫本雄一, 小林弘典, プレブスレン・ジャミヤン
- Journal Title
  
  ビタミン
  
  Volume: 86(1) Pages: 32-36
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorder: evaluation by in vitro probe acylcarnitine assay2012
- Author(s)
  Yamaguchi S (1/12), Fukao T (11/12), et al
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 107 Pages: 87-89
- DOI
  10.1016/j.ymgme.2012.07.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-24659498, KAKENHI-PUBLICLY-24114507
[Journal Article] タンデムマス法を導入した新生児マススクリーニングの現状2012
- Author(s)
  山口清次
- Journal Title
  
  小児科
  
  Volume: 53 Pages: 1101-1110
- NAID
  40019388633
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] タンデムマス導入による拡大スクリーニングの諸問題2011
- Author(s)
  山口清次
- Journal Title
  
  日本先天代謝異常学会雑誌
  
  Volume: 27 Pages: 36-41
- NAID
  10031002640
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence2011
- Author(s)
  Yagi M
- Journal Title
  
  Mol Genet Metab
  
  Volume: 104 Pages: 556-559
- DOI
  10.1016/j.ymgme.2011.09.025
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10F00430, KAKENHI-PROJECT-22390208
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy : The importance of metabolic autopsy and expanded newborn screening2011
- Author(s)
  Yamamoto T
- Journal Title
  
  Mol Genet Metab
  
  Volume: 102 Pages: 399-406
- DOI
  10.1016/j.ymgme.2010.12.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10F00430, KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195
[Journal Article] 乳幼児突然死予防におけるタンデムマス・スクリーニンの意義2011
- Author(s)
  山口清次
- Journal Title
  
  日本SIDS・乳幼児突然死予防学会雑誌
  
  Volume: 11 Pages: 30-34
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 12011
- Author(s)
  Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, Taketani T, Yamaguchi S
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 102 Pages: 343-348
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] 新生児突然死とその予防2011
- Author(s)
  虫本雄一, 山口清次
- Journal Title
  
  産婦人科治療
  
  Volume: 102(4) Pages: 317-321
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 12011
- Author(s)
  Mushimoto Y, Yamaguchi S (8/8), et al
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 102 Pages: 343-348
- DOI
  10.1016/j.ymgme.2010.11.159
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195, KAKENHI-PROJECT-22790983
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial beta-oxidation : comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay2010
- Author(s)
  Li H, Yamaguchi S (7/7), et al
- Journal Title
  
  Brain & Development
  
  Volume: 32 Pages: 362-370
- DOI
  10.1016/j.braindev.2009.06.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195, KAKENHI-PROJECT-22790983
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial β-oxidation : Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S
- Journal Title
  
  Brain & Development
  
  Volume: 32巻 Pages: 362-370
- NAID
  10027491314
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Heat stress deteriorates mitochondrial β-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid β-oxidation disorders2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878巻 Pages: 1669-1672
- NAID
  10028037801
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Heat stress deteriorates mitochondrial β-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid β-oxidation disorders2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878巻 Pages: 1669-1672
- NAID
  10028037801
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Heat stress deteriorates mitochondrialβ-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acidβ-oxidation disorders2010
- Author(s)
  Li H, Yamaguchi S (7/7), et al
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878 Pages: 1669-1672
- DOI
  10.1016/j.jchromb.2010.01.046
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195
[Journal Article] Simple and rapid analytical method for detection of amino acids in blood using blood spot on filter paper,fast-GC/MS and isotope dilution technique2010
- Author(s)
  Kawana S, Nakagawa K, Hasegawa Y, Yamaguchi S
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878巻 Pages: 3113-3118
- NAID
  10028043843
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 22010
- Author(s)
  Endo M, Yamaguchi S (9/9), et al
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878 Pages: 1673-1676
- DOI
  10.1016/j.jchromb.2010.03.029
- NAID
  10028037822
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195, KAKENHI-PROJECT-22790983
[Journal Article] In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type22010
- Author(s)
  Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, Mushimoto Y, Li H, Purevsuren J, Yamaguchi S
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878巻 Pages: 1673-1676
- NAID
  10028037822
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Simple and rapid analytical method for detection of amino acids in blood using blood spoton filter paper, fast-GC/MS and isotope dilution technique2010
- Author(s)
  Kawana S, Nakagawa K, Hasegawa Y, Yamaguchi S
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878 Pages: 3113-3118
- DOI
  10.1016/j.jchromb.2010.09.015
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Carnitine palmitoyltransferase 2 deficiency : the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation2010
- Author(s)
  Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N
- Journal Title
  
  The Tohoku Journal of Experimental Medicine
  
  Volume: 221巻 Pages: 191-195
- NAID
  10027084985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial β-oxidation : Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S
- Journal Title
  
  Brain, Development
  
  Volume: 32巻 Pages: 362-370
- NAID
  10027491314
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Unique activation status of peripheral blood mononuclear cells at acute phase of Kawasaki disease2010
- Author(s)
  Ikeda K, Yamaguchi K, Tanaka T, Mizuno Y, Hijikata A, Ohara O, Takada H, Kusuhara K, Hara T
- Journal Title
  
  Clin Exp Immunol
  
  Volume: 160 Pages: 446-455
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591389
[Journal Article] 健診・検査後の対応とその評価 : 先天性脂肪酸代謝異常症2006
- Author(s)
  山口清次
- Journal Title
  
  小児科臨床 59
  
  Pages: 643-651
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] Near future of neonatal screening introducing tandem mass spectrometry (in Japanese)2006
- Author(s)
  Yamaguchi, S
- Journal Title
  
  J Japanese Society of Inborn Metabolic Diseases, (review yes) 22
  
  Pages: 69-69
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 健診・検査後の対応とその評価 : 先天性脂肪酸代謝異常症2006
- Author(s)
  山口清次
- Journal Title
  
  小児科臨床 59
  
  Pages: 643-651
- Data Source
  KAKENHI-PROJECT-18659303
[Journal Article] Sudden infant. death and inherited metabolic diseases(in Japanese)2006
- Author(s)
  Yamaguchi, S
- Journal Title
  
  Current Information of Maternal and Child Health (review no) 53
  
  Pages: 39-45
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] タンデムマスによる新生児スクリーニングの近未来2006
- Author(s)
  山口清次
- Journal Title
  
  日本先天代謝異常学会雑誌 22
  
  Pages: 66-69
- NAID
  10018149994
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] タンデムマスを導入した新生児マススクリーニングの新時代2006
- Author(s)
  山口清次
- Journal Title
  
  小児保健研究 65(6)
  
  Pages: 725-732
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] The New era of neonatal screening introduced tandm mass spectrometry(in Japanese)2006
- Author(s)
  Yamaguchi, S
- Journal Title
  
  J Japanese Child Health (review no) 65
  
  Pages: 725-32
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 乳幼児突然死症候群(SIDS)と先天代謝異常症2006
- Author(s)
  山口清次
- Journal Title
  
  母子保健情報 53
  
  Pages: 39-45
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] タンデムマスを導入した新生児マススクリーニングの新時代2006
- Author(s)
  山口清次
- Journal Title
  
  小児保健研究 65
  
  Pages: 725-732
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] タンデムマスによる新生児スクリーニングの近未来2006
- Author(s)
  山口清次
- Journal Title
  
  日本先天代謝異常学会雑誌 22(1)
  
  Pages: 66-69
- NAID
  10018149994
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 乳幼児突然死症候群(SIDS)と先天代謝異常症2006
- Author(s)
  山口清次
- Journal Title
  
  毋子保健情報 53
  
  Pages: 39-45
- Data Source
  KAKENHI-PROJECT-18659303
[Journal Article] Development in study of organic and fatty acid disorders(in Japanese)2005
- Author(s)
  Yamaguchi, S
- Journal Title
  
  J Japanese Society of Inborn Metabolic Diseases (review yes) 21
  
  Pages: 26-36
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 有機酸・脂肪酸代謝異常研究の進歩2005
- Author(s)
  山口清次
- Journal Title
  
  日本先天代謝異常学会誌 21(1)
  
  Pages: 26-36
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] Critical points in neonatal screening practice(in Japanese)2005
- Author(s)
  Yamaguchi, S
- Journal Title
  
  Perinatal Medicine (review yes) 35
  
  Pages: 1209-1212
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 新生児マススクリーニング実施の要点2005
- Author(s)
  山口清次
- Journal Title
  
  周産期医学 35(9)
  
  Pages: 1209-1212
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 新生児マススクリーニング実施の要点2005
- Author(s)
  山口清次
- Journal Title
  
  周産期医学 35(9)
  
  Pages: 1209-1212
- Data Source
  KAKENHI-PROJECT-16659276
[Journal Article] 新生児マススクリーニング実施の要点2005
- Author(s)
  山口清次
- Journal Title
  
  周産期医学 35
  
  Pages: 1209-1212
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 有機酸・脂肪酸代謝異常研究の進歩2005
- Author(s)
  山口清次
- Journal Title
  
  日本先天代謝異常学会誌 21
  
  Pages: 26-36
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390302
[Journal Article] 有機酸代謝異常スクリーニング -その方法と意義2004
- Author(s)
  山口清次
- Journal Title
  
  小児内科 36
  
  Pages: 1943-1949
- Data Source
  KAKENHI-PROJECT-16659276
[Journal Article] 新生児マススクリーニングの新しい動き-質量分析の導入による新展開-2004
- Author(s)
  山口清次
- Journal Title
  
  日本医事新報 4175
  
  Pages: 19-25
- NAID
  40006180866
- Data Source
  KAKENHI-PROJECT-16659276
[Journal Article] 新しい新生児マススクリーニング:タンデムマスの登場2004
- Author(s)
  山口清次
- Journal Title
  
  島根医学 24(3)
  
  Pages: 171-178
- Data Source
  KAKENHI-PROJECT-16659276
[Presentation] Diversity in disease spectrum of organic acidemia and fatty acid oxidation defect in ASIA2019
- Author(s)
  Yamaguchi S
- Organizer
  Pediatric Scientific Conference of National Children’s Hospital
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08347
[Presentation] Newborn Screening Support System of Japan: Role of the Government and Japanese Society of Neonatal Screening (JSNS)2019
- Author(s)
  Yamaguchi S
- Organizer
  5th Korean Congress of Neonatal Screening
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08347
[Presentation] Fatty Acid Oxidation Disorder: Changes of clinical presentation with age2019
- Author(s)
  Yamaguchi S
- Organizer
  The Life Course of Inherited Metabolic Disease
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08347
[Presentation] Diversity of disease spectrum of the MS/MS screening targets in Asia2019
- Author(s)
  8) Yamaguchi S, Shibata N, Hasegawa Y, Kobayashi H, Yamada K, Ohsawa Y, Fukuda S, Taketani
- Organizer
  第61回先天代謝異常学会アジアセッション
- Data Source
  KAKENHI-PROJECT-19K08347
[Presentation] Global trend of neonatal screening (NBS) for metabolic disorders2019
- Author(s)
  Yamaguchi S
- Organizer
  1st Mongorean Congress of Neonatal Screening
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08347
[Presentation] タンデムマス・スクリーニングの成果と今後2018
- Author(s)
  山口清次
- Organizer
  第121回日本小児科学会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] タンデムマス・スクリーニングの成果と今後のあり方2018
- Author(s)
  山口清次
- Organizer
  第121回日本小児科学会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Effects and Problems of Expanded Newborn Screening in Japan:2018
- Author(s)
  Seiji Yamaguchi
- Organizer
  15th　Asia-Pacific COンgれssおfPediatrics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Newborn screening and collaboration with Asia2018
- Author(s)
  Yamaguchi S
- Organizer
  2nd Nutrimet of Indonesia
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Country-specific metabolic diseases detectable by mass spectrometry in Asian countries: symptomatic screening for organic acidemias, fatty acid oxidation defects as well as amino acidemias2018
- Author(s)
  Yamaguchi S, Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yangu Y, Dung VC, Verma IC, Shigematsu Y, Fukao T, Taketani T
- Organizer
  5th Asian Congress of Inherited Metaboic Diseases
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Diversity in disease distribution of targets in the TMSScreening in ASIA and prenatal diagnosis for severe cases2017
- Author(s)
  Yamaguchi S
- Organizer
  International Conference of the Indian Society of Inborn Errors of Metabolism (ISIEM 2017)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Cerebral organic acidemia: simple screening for ECHS1 defect by GC/MS analysis2017
- Author(s)
  Yamaguchi S
- Organizer
  12th Asia-Pacific Conference on Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Prenatal diagnosis for severe cases of targets in expanded newborn screening2017
- Author(s)
  Yamaguchi S, Hasegawa Y, Yamada K, Bo R, Kobayashi H, Taketani T
- Organizer
  12th Asia-Pacific Conference on Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Distribution, incidence and molecular aspects of target diseases of expanded newborn screening using MS/MS in Japan2016
- Author(s)
  Yamaguchi S, Hasegawa Y, Shibata N, Kobayashi H, Yamada K, Bo R, Taketani T, Fukuda S, Shigematsu Y, Niu DM, Hoffmann GF
- Organizer
  9th International Society Neonatal Screening
- Place of Presentation
  Hague, Holland
- Year and Date
  2016-09-11
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Diversity of disease distribution and genetic background of inherited metabolic disease of organic and fatty acids in Asian countries. The 13th International Congress of Human Genetics2016
- Author(s)
  1) Yamaguchi S, Hasegawa Y, Shibata N, Kobayashi H, Yamada K, Bo R, Taketani T, Chi DV, Thu NN
- Organizer
  13th International Congress of Human Genetics
- Place of Presentation
  Kyoto, Japan
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Clinical and genetic aspects of 50 Japanese cases of VLCAD deficiency2016
- Author(s)
  Yamaguchi S, Hasegawa Y, Furui M, Yamada K, Bo R, Kobayashi H, Taketani T, Fukuda S, Fukao T, Nishino I
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2016
- Place of Presentation
  Rome, Italy
- Year and Date
  2016-09-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Progress in detection and treatment for inborn metabolic diseases2016
- Author(s)
  Yamaguchi S
- Organizer
  Annual Meeting of Vietnamese Pediatric Association
- Place of Presentation
  Hanoi, Vietnam
- Year and Date
  2016-11-03
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Fatty acid oxidation defects: A causative muscular disease detectable by mass spectrometric procedure (GC/MS and MS/MS)2016
- Author(s)
  Yamaguchi S
- Organizer
  15th Asian and Oceanian Myology Center Annual Scientific Meeting 2016
- Place of Presentation
  Hsinchu, Taiwan
- Year and Date
  2016-05-26
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Two patients with atypical form and one with infantile form of HSD10 disease were identified in Japan2015
- Author(s)
  Fukao T, Sasai H, Aoyama Y, Akiba K, Goto M, Hasegawa Y, Kobayashi M, Ida H, Akagawa S, Hasegawa Y, Yamaguchi S, Shigematsu Y
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2015
- Place of Presentation
  Lyon Convention Center, Lyon, France
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate2015
- Author(s)
  Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, De Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJA, Bastin J
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2015
- Place of Presentation
  Lyon Convention Center, Lyon, France
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] The disease distribution of organic acidemias and fatty acid oxidation defects detected in Asian countries2015
- Author(s)
  Hasegawa Y, Kobayashi H, Yamada K, Bo R, Takahashi T, Yamaguchi S
- Organizer
  9th Asia-Pacific Regional Meeting 2015　- International Scoeity for Neonatal Screening
- Place of Presentation
  ParkRoyal Hotel, Penang, Malaysia
- Year and Date
  2015-12-07
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] CPT-2欠損症患者の異化亢進を反映するバイオマーカに関検討～アシルカルニチン分析との比較から2015
- Author(s)
  坊亮輔, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第96回山陰小児科学会
- Place of Presentation
  米子コンベンションセンター、米子
- Year and Date
  2015-09-27
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Ethylmalonic encephalopathy in an Indian boy: a report of mutations in ETHE1 gene2015
- Author(s)
  Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2015
- Place of Presentation
  Lyon Convention Center, Lyon, France
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] 次世代シークエンサーを用いたMetabolic autopsy―不幸の連鎖を止めるため「避けられる死」を提唱したい―2015
- Author(s)
  山本琢磨, 三嶋博之, 水上創, 梅原敬弘, 村瀬壮彦, 深堀友希, 山口清次, 吉浦孝一郎, 池松和哉
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Acyl-CoA Synthetase およびβ酸化酵素に解熱剤の与える影響: in vitro probe assay での評価2015
- Author(s)
  坊亮輔, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] タンデムマス導入にともなう新生児マススクリーニングの新しい体制2015
- Author(s)
  山口清次
- Organizer
  第62回日本小児保健協会学術集会
- Place of Presentation
  長崎ブリックホール、長崎
- Year and Date
  2015-06-18
- Invited
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] タンデムマス・スクリーニング導入後にSIDS/ALTE 症例で発見された代謝異常症2015
- Author(s)
  長谷川有紀, 坊亮輔, 小林弘典, 山田健治, 高橋知男, 山口清次
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Fatty acid oxidation defects and its clinical significance2015
- Author(s)
  Yamaguchi S
- Organizer
  The 8th International & 13th National Congress on Quality Improvement in Clinical Laboratories, workshop
- Place of Presentation
  Razi International Conguress Center, Tehran, Iran
- Year and Date
  2015-04-22
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] 軽症Short-chain enoyl-CoA hydratase (ECHS1) 欠損症の生化学的解析：診断に有効な化合物の同定2015
- Author(s)
  若松延昭, 山田憲一郎, 北浦靖之, 近藤雄介, 野村紀子, 村山圭, 山口清次, 下村吉治, 横地健治, ピットジェームス
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] VLCAD欠損症の診断マーカーにおける血清C14:1/C12:1比の有用性2015
- Author(s)
  山田健治, 坊亮輔, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第42回日本マススクリーニング学会
- Place of Presentation
  大手町サンケイプラザ、東京
- Year and Date
  2015-08-21
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Leigh disease and the valine pathway2015
- Author(s)
  Pitt JJ, Peters H, Ferdinandusse S, Ruiter J, Wanders RJA, Yaplito-Lee J, Kok F, Boy R, Korman SH, Fitzsimons PE, Crushell E, Hughes J, Yamaguchi S, Goto Y, Wakamatsu N, Yokochi K, Yamada K, Chen BC, Ngu LH
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2015
- Place of Presentation
  Lyon Convention Center, Lyon, France
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Inborn metabolic disease in Asia: collaborative study with mass spectrometry2015
- Author(s)
  Yamaguchi S
- Organizer
  The 118th Annual Meeting of the Japan Pediatric Society / The 11th Asian Society for Pediatric Research, Symposium
- Place of Presentation
  Osaka International Convention Center, Osaka
- Year and Date
  2015-04-15
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] タンデムマス導入にともなう新しい新生児マススクリーニング体制2015
- Author(s)
  山口清次
- Organizer
  第118回日本小児科学会学術集会　シンポジウム
- Place of Presentation
  大阪、大阪国際会議場
- Year and Date
  2015-04-17
- Invited
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Prenatal diagnosis for severe forms of organic acidemias and fatty acid oxidation defects which are targets of expanded newborn screening2015
- Author(s)
  Yamaguchi S, Hasegawa Y, Bo R, Yamada K, Kobayashi H, Taketani T, Fukuda S
- Organizer
  9th Asia-Pacific Regional Meeting 2015　- International Scoeity for Neonatal Screening
- Place of Presentation
  ParkRoyal Hotel, Penang, Malaysia
- Year and Date
  2015-12-07
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Prenatal diagnosis on 143 cases with organic and fatty acid diseases by biochemical and gene analyses with amniocentesis2015
- Author(s)
  Yamaguchi S, Hzsegawa Y, Bo R, Yamada K, Kobayashi H, Taketani T, Fukuda S
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2015
- Place of Presentation
  Lyon Convention Center, Lyon, France
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] VLCAD 欠損症合併妊娠の母児例2015
- Author(s)
  山田健治, 坊亮輔, 小林弘典, 長谷川有紀, 河上早苗, 渡邊あさみ, 松原圭一, 山口清次
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] 日本人グルタル酸血症2 型の臨床的分子遺伝的特徴：32 例の検討2015
- Author(s)
  山口清次, 長谷川有紀, 小林弘典, 山田健治, 坊亮輔, 古居みどり, 竹谷健, 福田誠司, 深尾敏幸
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] タンデムマス・スクリーニング対象疾患のうち重篤な代謝異常の出生前診断2015
- Author(s)
  山口清次, 長谷川有紀
- Organizer
  第29回日本医学会総会
- Place of Presentation
  京都、国立京都国際会館
- Year and Date
  2015-04-11
- Invited
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Clinical and genetic investigation of Japanese 16 patients with trifunctional protein deficiency2015
- Author(s)
  Bo R, Purevsuren J, Fukao T, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2015
- Place of Presentation
  Lyon Convention Center, Lyon, France
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] Genetic diversity of organic and fatty acid disorders detectable in expanded newborn screening in Asian countries2015
- Author(s)
  Yamaguchi S, Fukao T, Vu Chi D, Nguen Thu N
- Organizer
  The 11th Asia-Pacific Conference on Human Genetics 2015, Symposium
- Place of Presentation
  Sheraton Hotel, Hanoi, Vietnam
- Year and Date
  2015-09-16
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593
[Presentation] ミトコンドリア三頭酵素 (TFP) 欠損症の出生前診断5症例の経験2014
- Author(s)
  長谷川有紀, ,古居みどり, 小林弘典, 山田健治, 高橋知男, 竹谷健, 山口清次
- Organizer
  第11回中国四国出生前医学研究会
- Place of Presentation
  岡山コンベンションセンター、岡山
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Organic Acidaemias and emergency treatments2014
- Author(s)
  Yamaguchi S
- Organizer
  1st Asia Pacific Inborn Errors of Metabolism Course
- Place of Presentation
  TKP Garden City Shinagawa, Tokyo, Japan
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Organic Acidaemias and emergency treatments2014
- Author(s)
  Yamaguchi S
- Organizer
  1st Asia Pacific Inborn Errors of Metabolism Course
- Place of Presentation
  TKP Garden City Shinagawa, Tokyo, Japan
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 初代培養神経細胞および星状膠細胞のミトコンドリア脂肪酸β酸化系の免疫組織化学とIVPAによる解析2014
- Author(s)
  臼田信光、厚沢季美江、深澤元晶、松澤綾美、古居みどり、橋本隆、山口清次
- Organizer
  第55回組織細胞化学会全国学術集会
- Place of Presentation
  長野県松本市　信州大学医学部
- Year and Date
  2014-09-27
- Data Source
  KAKENHI-PROJECT-25504016
[Presentation] 初代培養繊維芽細胞のミトコンドリア脂肪酸β酸化系の免疫組織化学とIVPAによる解析2014
- Author(s)
  深澤元晶、臼田信光、厚沢季美江、古居みどり、橋本隆、山口清次
- Organizer
  第55回組織細胞化学会全国学術集会
- Place of Presentation
  長野県松本市　信州大学医学部
- Year and Date
  2014-09-27
- Data Source
  KAKENHI-PROJECT-25504016
[Presentation] 初代培養Sertoli細胞の組織化学的特徴とミトコンドリア脂肪酸β酸化系酵素の免疫組織化学2014
- Author(s)
  深澤元晶、臼田信光、厚沢季美江、古居みどり、橋本隆、山口清次
- Organizer
  第55回組織細胞化学会全国学術集会
- Place of Presentation
  長野県松本市　信州大学医学部
- Year and Date
  2014-09-27
- Data Source
  KAKENHI-PROJECT-25504016
[Presentation] Screening, diagnosis, and treatment of organic and fatty acid disorders2013
- Author(s)
  Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] A new treatment option for mitochondrial fatty acid oxidation defects: Bezafibrate, a PPAR agonist2013
- Author(s)
  Yamaguchi S
- Organizer
  12th Asian Oceanian Congress on Child Neurology
- Place of Presentation
  Inter Continental RIYADH, Riyadh, Saudi Arabia
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Responsiveness of bezafibrate for neonatal onset form of glutaric acidemia type II: comparison with milder form using in vitro probe assay2013
- Author(s)
  Yamada K, Kobayashi H, Takahashi T, Hasegawa Y, Purevsuren J, Fukuda S, Ito M, Yamaguchi S
- Organizer
  12th International Congress of Inborn Errors of Metabolism
- Place of Presentation
  Palau de Congressos de Catalunya, Barcelona
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Two Japanese cases of adult onset myopathic form of gulutaric acidemia type II2013
- Author(s)
  Yamaguchi S(1/14), et al
- Organizer
  12th International Congress of Inborn Errors of Metabolism
- Place of Presentation
  Palau de Congressos de Catalunya, Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] マイクロサテライトマーカーによる個人識別を組み入れた先天代謝異常症の出生前診断2013
- Author(s)
  古居みどり, 竹谷健, 永瀬真弓, 長谷川有紀, 小林弘典, 山田健治, 山口清次
- Organizer
  日本人類遺伝学会　第58回大会
- Place of Presentation
  江陽グランドホテル、仙台
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] グルタル酸血症2型の2例に対するベザフィブラートの治療経験2013
- Author(s)
  山田健治, 小林弘典, 高橋知男, 長谷川有紀, 山口清次
- Organizer
  第27回日本小児脂質研究会
- Place of Presentation
  福井商工会議所ビル、福井
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Diagnosis and treatment of mitochondrial fatty acid oxidation defects2013
- Author(s)
  Yamaguchi S
- Organizer
  The Second Forum of International Translational Medicine of Clinical Genetics in Beijing - Development and Application of Genetic Technology
- Place of Presentation
  International Conference Center, Beijing, China
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] GC-MS for diagnosis of Organic Acidurias2013
- Author(s)
  Yamaguchi S
- Organizer
  International Conference on Inborn Errors of Metabolism 2013
- Place of Presentation
  PGIMER & Dr. RML Hospital, New Delhi, India
- Invited
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Effect and toxicity of high-dose bezafibrate on mitochondrial fatty acid oxidation in cultured cells2013
- Author(s)
  Yamada K, Kobayashi H, Takahashi T, Hasegawa Y, Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Screening, diagnosis, and treatment of organic and fatty acid disorders2013
- Author(s)
  Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] A new treatment option for mitochondrial fatty acid oxidation defects: Bezafibrate, a PPAR agonist2013
- Author(s)
  Yamaguchi S
- Organizer
  12th Asian Oceanian Congress on Child Neurology
- Place of Presentation
  InterContinental RIYADH, Riyadh, Saudi Arabia
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Selective screening for organic acidemias by urinary organic acids analysis using GC/MS in Asian countries2013
- Author(s)
  Hasegawa Y, Kobayashi H, Yamada K, Takahashi T, Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] GC-MS for diagnosis of Organic Acidurias2013
- Author(s)
  Yamaguchi S
- Organizer
  International Conference on Inborn Errors of Metabolism 2013
- Place of Presentation
  PGIMER & Dr. RML Hospital, New Delhi, India
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Two siblings with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency developed rhabdomyolysis after supplementation of L-carnitine2013
- Author(s)
  Watanabe K, Nakagawa S, Yotsumata K, Sameshima K, Yonee C, Yamada K, Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 新しい新生児マススクリーニングと遺伝カウンセリング2013
- Author(s)
  山口清次
- Organizer
  日本人類遺伝学会　第58回大会
- Place of Presentation
  江陽グランドホテル、仙台
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Responsiveness of bezafibrate for neonatal onset form of glutaric acidemia type II: comparison with milder form using in vitro probe assay2013
- Author(s)
  Yamada K, Kobayashi H, Takahashi T, Hasegawa Y, Purevsuren J, Fukuda S, Ito M, Yamaguchi S
- Organizer
  12th International Congress of Inborn Errors of Metabolism
- Place of Presentation
  Palau de Congressos de Catalunya, Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Fatty acid oxidation defects2013
- Author(s)
  Yamaguchi S
- Organizer
  International Conference on Inborn Errors of Metabolism 2013
- Place of Presentation
  PGIMER & Dr. RML Hospital, New Delhi, India
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 新生児タンデムマス・スクリーニングでイソ吉草酸血症の診断マーカーが偽陽性を示した2例：シベレスタット投与例と母体への抗菌薬投与例2013
- Author(s)
  山田健治, 小林弘典, 長谷川有紀, 中村信, 立石浩, 山口清次
- Organizer
  第58回日本未熟児新生児学会
- Place of Presentation
  ANAｸﾗｳﾝﾌﾟﾗｻﾞﾎﾃﾙ金沢、他、金沢
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] マイクロサテライトマーカーによる個人識別を組み入れた先天代謝異常症の出生前診断2013
- Author(s)
  古居みどり, 竹谷健, 永瀬真弓, 長谷川有紀, 小林弘典, 山田健治, 山口清次
- Organizer
  日本人類遺伝学会　第58回大会
- Place of Presentation
  江陽グランドホテル、仙台
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Responsiveness of bezafibrate for neonatal onset form of glutaric acidemia type II : comparison with milder form using in vitro probe assay2013
- Author(s)
  Yamada K, Yamaguchi S(8/8), et al
- Organizer
  12th International Congress of Inborn Errors of Metabolism
- Place of Presentation
  Palau de Congressos de Catalunya, Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 新生児マス・スクリーニング対象疾患に対する出生前診断の経験2013
- Author(s)
  小村有紀, 小林弘典, 山田健治, 高橋知男, 山口清次
- Organizer
  第40回日本マス・スクリーニング学会
- Place of Presentation
  大阪市中央公会堂、大阪
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Diagnosis and treatment of mitochondrial fatty acid oxidation defects2013
- Author(s)
  Yamaguchi S
- Organizer
  The Second Forum of International Translational Medicine of Clinical Genetics in Beijing - Development and Application of Genetic Technology
- Place of Presentation
  International Conference Center, Beijing, China
- Invited
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] 突然死したカルニチンパルミトイルトランスフェラーゼ (CPT2) 欠損症の9カ月男児例2013
- Author(s)
  桑原優, 岡本典子, 城賀本敏弘, 元木崇裕, 寺岡いづみ, 中野威史, 林正俊, 小林弘典, 山口清次
- Organizer
  第40回日本マス・スクリーニング学会
- Place of Presentation
  大阪市中央公会堂、大阪
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Fatty acid oxidation defects2013
- Author(s)
  Yamaguchi S
- Organizer
  International Conference on Inborn Errors of Metabolism 2013
- Place of Presentation
  PGIMER & Dr. RML Hospital, New Delhi, India
- Invited
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] 小児のカルニチン代謝と抗菌薬2013
- Author(s)
  山口清次
- Organizer
  第40回日本小児臨床薬理学会学術集会
- Place of Presentation
  慶應義塾大学日吉キャンパス、横浜
- Invited
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Two Japanese cases of adult onset myopathic form of gulutaric acidemia type II2013
- Author(s)
  Yamaguchi S, Yamada K, Kobayashi H, Takahashi T, Hasegawa Y, Purevsuren J, Ohkubo T, Watanabe M, Tsunemi T, Ishii A, Takuma H, Tamaoka A, Shigematsu Y, Fukuda S
- Organizer
  12th International Congress of Inborn Errors of Metabolism
- Place of Presentation
  Palau de Congressos de Catalunya, Barcelona
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] シベレスタット（エラスポール）投与中のピバロイルカルニチン上昇の検討2013
- Author(s)
  山田健治, 小林弘典, 高橋知男, 長谷川有紀, 中村信, 山口清次
- Organizer
  第116回日本小児科学会
- Place of Presentation
  広島国際会議場、他、広島
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] タンデムマスを導入した新生児マススクリーニングの諸問題2013
- Author(s)
  山口清次
- Organizer
  第36回日本小児遺伝学会学術集会
- Place of Presentation
  エソール広島、広島
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and newborn screening in Japan2013
- Author(s)
  Yamaguchi S(1/11), Fukao T(9/11), et al
- Organizer
  2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium (NBS&GTS) and the International Society for Neonatal Screening (ISNS)
- Place of Presentation
  Atlanta Marriott Marquis, Atlanta, USA
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 小児のカルニチン代謝と抗菌薬2013
- Author(s)
  山口清次
- Organizer
  第40回日本小児臨床薬理学会学術集会
- Place of Presentation
  慶應義塾大学日吉キャンパス、横浜
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Hypothermia improves oxidation ability in cultured fibroblasts with fatty acid β-oxidation disorders: Evaluation by vitro probe assay2013
- Author(s)
  Liu L, Yamada K, Takahashi T, Kobayashi H, Hasegawa Y, Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and newborn screening in Japan2013
- Author(s)
  Yamaguchi S, Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Furui M, Fukao T, Shigematsu Y, Fukuda S
- Organizer
  2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium (NBS&GTS) and the International Society for Neonatal Screening (ISNS)
- Place of Presentation
  Atlanta Marriott Marquis, Atlanta, USA
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] 突然死したカルニチンパルミトイルトランスフェラーゼ (CPT2) 欠損症の9カ月男児例2013
- Author(s)
  桑原優, 岡本典子, 城賀本敏弘, 元木崇裕, 寺岡いづみ, 中野威史, 林正俊, 小林弘典, 山口清次
- Organizer
  第40回日本マス・スクリーニング学会
- Place of Presentation
  大阪市中央公会堂、大阪
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 新生児タンデムマス・スクリーニングでイソ吉草酸血症の診断マーカーが偽陽性を示した2例：シベレスタット投与例と母体への抗菌薬投与例2013
- Author(s)
  山田健治, 小林弘典, 長谷川有紀, 中村信, 立石浩, 山口清次
- Organizer
  第58回日本未熟児新生児学会
- Place of Presentation
  ANAｸﾗｳﾝﾌﾟﾗｻﾞﾎﾃﾙ金沢、他、金沢
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] タンデムマス法によるオルニチントランスカルバミラーゼ (OTC) 欠損症スクリーニングの可能性に関する検討2013
- Author(s)
  小林弘典, 箕畑俊和, 山田健治, 長谷川有紀, 高橋知男, 三渕浩, 中村公俊, 遠藤文夫, 山口清次
- Organizer
  第40回日本マス・スクリーニング学会
- Place of Presentation
  大阪市中央公会堂、大阪
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] サリチル酸のβ酸化に及ぼす影響: in vitro probe assay による評価2013
- Author(s)
  高橋知男, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第38回日本医用マススペクトル学会年会
- Place of Presentation
  神戸市産業振興センター、神戸
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] ろ紙血中アシルカルニチン値とヘマトクリットの関連性2013
- Author(s)
  山田健治, 小林弘典, 高橋知男, 長谷川有紀, 山口清次
- Organizer
  第40回日本マス・スクリーニング学会
- Place of Presentation
  大阪市中央公会堂、大阪
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] サリチル酸のβ酸化に及ぼす影響: in vitro probe assay による評価2013
- Author(s)
  高橋知男, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第38回日本医用マススペクトル学会年会
- Place of Presentation
  神戸市産業振興センター、神戸
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] High-risk screening for inborn errors of meatbolism (IMDs) in Asian countries using tandem mass spectrometry (MS/MS)2013
- Author(s)
  Kobayashi H, Hasegawa Y, Yamada K, Takahashi,T, Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Hypothermia improves oxidation ability in cultured fibroblasts with fatty acid β-oxidation disorders: Evaluation by vitro probe assay2013
- Author(s)
  Liu L, Yamada K, Takahashi T, Kobayashi H, Hasegawa Y, Yamaguchi S
- Organizer
  The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] SIDS, ALTE様症状で発症し先天代謝異常症と判明した10例の検討2013
- Author(s)
  高橋知男, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第40回日本マス・スクリーニング学会
- Place of Presentation
  大阪市中央公会堂、大阪
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Beriberi (Vitamin B1 deficiency) of young children lurking in modern life: A new approach for biochemical detection2013
- Author(s)
  Yamaguchi S
- Organizer
  2013 Joint Meeting of 13th Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology and Nutrition and 40th Japanese Society for Pediatric Gastroenterology, Hepatology and Nutrition
- Place of Presentation
  National Center of Sciences Building, Tokyo, Japan
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Beriberi (Vitamin B1 deficiency) of young children lurking in modern life: A new approach for biochemical detection2013
- Author(s)
  Yamaguchi S
- Organizer
  2013 Joint Meeting of 13th Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology and Nutrition and 40th Japanese Society for Pediatric Gastroenterology, Hepatology and Nutrition
- Place of Presentation
  National Center of Sciences Building, Tokyo, Japan
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] SIDS, ALTE様症状で発症し先天代謝異常症と判明した10例の検討2013
- Author(s)
  高橋知男, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第65回中国四国小児科学会
- Place of Presentation
  米子コンベンションセンター、米子
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] A new treatment option for mitochondrial fatty acid oxidation defects : Bezafibrate, a PPAR agonist2013
- Author(s)
  Yamaguchi S
- Organizer
  12th Asian Oceanian Congress on Child Neurology
- Place of Presentation
  Inter Continental RIYADH, Inter Continetal RIYADH, Riyadh, Saudi Arabia
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 質量分析を応用した有機酸・脂肪酸代謝異常の診断と病態解析に関する研究2012
- Author(s)
  山口清次
- Organizer
  第37回日本医用マススペクトル学会年会
- Place of Presentation
  愛知県産業労働センター、名古屋
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Current topics in diagnosis and treatment of mitochondrial fatty acid oxidation disorders2012
- Author(s)
  Yamaguchi S
- Organizer
  The 2nd Asian Congress for Inherited Metabolic Diseases & The 12th Asian-European Workshop on Inborn Errors of Metabolism & The 12th Korean Congress of Inherited Metabolic Disease
- Place of Presentation
  ロッテホテル、Seoul, Korea
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 質量分析を応用したミトコンドリア代謝障害の解析2012
- Author(s)
  山口清次
- Organizer
  第117回日本解剖学会総会・学術集会
- Place of Presentation
  山梨大学甲府キャンパス(甲府市)
- Year and Date
  2012-03-26
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] 質量分析を応用した有機酸・脂肪酸代謝異常の診断と病態解析に関する研究2012
- Author(s)
  山口清次
- Organizer
  第37回日本医用マススペクトル学会年会
- Place of Presentation
  愛知県産業労働センター、名古屋
- Invited
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Current topics in diagnosis and treatment of mitochondrial fatty acid oxidation disorders2012
- Author(s)
  Yamaguchi S
- Organizer
  The 2nd Asian Congress for Inherited Metabolic Diseases & The 12th Asian-European Workshop on Inborn Errors of Metabolism & The 12th Korean Congress of Inherited Metabolic Disease, symposium
- Place of Presentation
  ロッテホテル、Seoul, Korea
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] タンデムマス法を導入した新生児マススクリーニングの新時代2012
- Author(s)
  山口清次
- Organizer
  第48回日本周産期・新生児医学会
- Place of Presentation
  大宮ソニックシティ、さいたま
- Invited
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] セレウス菌食中毒による急性脳症はミトコンドリアβ酸化障害を介して起こる2012
- Author(s)
  山口清次
- Organizer
  第54回日本小児神経学会
- Place of Presentation
  ロイトン札幌、札幌
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] 質量分析を応用したミトコンドリア代謝障害の解析2012
- Author(s)
  山口清次
- Organizer
  第117回日本解剖学会総会・学術集会シンポジウム
- Place of Presentation
  山梨大学甲府キャンパス(甲府市)
- Year and Date
  2012-03-26
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] 質量分析を応用したミトコンドリア代謝障害の解析2012
- Author(s)
  山口清次
- Organizer
  第117回日本解剖学会総会・学術集会
- Place of Presentation
  山梨大学甲府キャンパス(甲府市)
- Year and Date
  2012-03-26
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] セレウス菌食中毒による急性脳症はミトコンドリアβ酸化障害を介して起こる2012
- Author(s)
  山口清次
- Organizer
  第54回日本小児神経学会
- Place of Presentation
  ロイトン札幌、札幌
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Intracellular acylcarniitine profiling using in vitro probe assay at various C0 concentrations selectively identifies CPT-1 deficiency and primary carnitine deficiency2012
- Author(s)
  Yamaguchi S
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2012
- Place of Presentation
  ICC, Birminghan, UK
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Intracellular acylcarniitine profiling using in vitro probe assay at various C0 concentrations selectively identifies CPT-1 deficiency and primary carnitine deficiency2012
- Author(s)
  Yamaguchi S (1/9), et al
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2012
- Place of Presentation
  ICC, Birminghan, UK
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 小児科領域におけるタンデムマスとGC/MSの臨床応用: 最近の進歩2012
- Author(s)
  山口清次
- Organizer
  第59回日本臨床検査医学会学術集会シンポジウム
- Place of Presentation
  国立京都国際会館、京都
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] ベザフィブレートのミトコンドリアβ酸化異常症に対する治療-in vitro probe assayによる評価-2011
- Author(s)
  山口清次
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  パシフィコ横浜(横浜市)
- Year and Date
  2011-05-27
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] A hypolipidemic drug, bezafibrate, can be a new treatment option for mitochondrial fatty acid oxidation disorders2011
- Author(s)
  Yamaguchi S (1/8), Fukao T (7/8), et al
- Organizer
  The 7th Congress of Asian Society for Pediatric Research
- Place of Presentation
  Colorado Convention Center, Denver, USA
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] A hypolipidemic drug, bezafibrate, can be a new treatment option for mitochondrial fatty acid oxidation disorders2011
- Author(s)
  Yamaguchi S
- Organizer
  The 7th Congress of Asian Society for Pediatric Research2
- Place of Presentation
  Colorado Convention Center, Denver, USA
- Year and Date
  2011-04-30
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] ベザフィブラートが有効であった遅発型グルタル酸尿症2型の男児例2011
- Author(s)
  小林弘典, 山田健治, プレブスレンジャミヤン, 虫本雄一, 高橋知男, 長谷川有紀, 伊藤道徳, 山口清次
- Organizer
  第53回日本先天性代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張(千葉市)
- Year and Date
  2011-11-26
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] A hypolipidemic drug, bezafibrate, can be a new treatment option for mitochondrial fatty acid oxidation disorders2011
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukao T, Fukuda S
- Organizer
  The 7th Congress of Asian Society for Pediatric Research
- Place of Presentation
  Colorado Convention Center(Denver, USA)
- Year and Date
  2011-04-30
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Emetic toxin of bacillus cereus that associates with reye-like syndrome severely inhibits mitochondrial fatty acid oxidation2011
- Author(s)
  Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Yamada K, Okamoto A, Ohta M, Yamaguchi S
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Matabolism. International Conference Center
- Place of Presentation
  Geneva, Switzerland
- Year and Date
  2011-08-31
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] A hypolipidemic drug, bezafibrate, can be a new treatment option for mitochondrial fatty acid oxidation disorders2011
- Author(s)
  Yamaguchi S
- Organizer
  The 7th Congress of Asian Society for Pediatric Research2
- Place of Presentation
  Colorado Convention Center (Denver, USA)
- Year and Date
  2011-04-30
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] タンデムマスと培養細胞を用いるin vitro probe assayの応用:ベザフィブレートのミトコンドリアβ酸化異常症に対する効果の評価2011
- Author(s)
  山口清次
- Organizer
  第36回日本医用マススペクトル学会年会
- Place of Presentation
  ホテル阪急エキスポパーク(吹田市)
- Year and Date
  2011-09-15
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 新生児タンデムマス・スクリーニングで発見される母親の無症候性代謝異常2011
- Author(s)
  山口清次
- Organizer
  第47回日本周産期・新生児医学会
- Place of Presentation
  札幌コンベンションセンター(札幌市)
- Year and Date
  2011-07-11
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] タンデムマスを導入した新生児マススクリーニング:新生児科医の知っておくべき知識2011
- Author(s)
  山口清次
- Organizer
  第56回日本未熟児新生児学会
- Place of Presentation
  東京国際フォーラム(東京都)(招待講演)
- Year and Date
  2011-11-14
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] ベザフィブレートのミトコンドリアβ酸化異常症に対する治療-in vitro probe assayによる評価-2011
- Author(s)
  山口清次
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  パシフィコ横浜(横浜市)
- Year and Date
  2011-05-27
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] グルタル酸尿症2型に対するベザフィブラートの効果: in vitro probe assayによる評価2011
- Author(s)
  山田健治, 小林弘典, 虫本雄一, プレブスレンジャミヤン, 長谷川有紀, 山口清次
- Organizer
  第53回日本先天性代謝異常学会.千葉
- Place of Presentation
  ホテルニューオータニ幕張(千葉市)
- Year and Date
  2011-11-25
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Pediatric emergency and nutritionally treatable inborn errors of metabolism2010
- Author(s)
  Yamaguchi S
- Organizer
  7th Asia-pacific regional meeting of the international society for neonatal screening
- Place of Presentation
  Discovery Kartika Plaza, Kuta Bali, Indonesia(招待講演)
- Year and Date
  2010-10-03
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Acute encephalopathy due to emetic toxin bacillus cereus and mitochondrial fatty acid oxidation disturbance2010
- Author(s)
  Purevsuren J, 長谷川有紀, 山口清次
- Organizer
  第42回日本小児感染症学会
- Place of Presentation
  仙台国際センター、仙台市
- Year and Date
  2010-11-27
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Pediatric emergency and inherited metabolic disorders(IMDs): prevention from impairments2010
- Author(s)
  Yamaguchi S
- Organizer
  China (Ningxia)-Japan Inherited Metabolic Disorder Foram
- Place of Presentation
  寧夏医科大学、中国銀川市(招待講演)
- Year and Date
  2010-09-19
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Organic acidemia and its treatment in JAPAN. 7th Asia-pacific regional meeting of the international society for neonatal screening, Symposium2010
- Author(s)
  Yamaguchi S
- Organizer
  Discovery Kartika Plaza
- Place of Presentation
  Kuta Bali, Indonesia
- Year and Date
  2010-10-05
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Effect of heat stress and bezafibrate on mitochondrial fatty acid oxidation(FAO)in FAO disorders : evaluation by in vitro probe acylcarnitine assay2010
- Author(s)
  Yamaguchi S, Li H, et.al.
- Organizer
  Society for the study of inborn errors of metabolism
- Place of Presentation
  The Istanbul Convention and Exhibition Center, Istanbul, Thrkey
- Year and Date
  2010-08-31
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Expanded newborn screening in JAPAN, and the benefit for collaboration with developing countries.2010
- Author(s)
  Yamaguchi S
- Organizer
  7th Asia-pacific regional meeting of the international society for neonatal screening
- Place of Presentation
  Discovery Kartika Plaza, Kuta Bali, Indonesia(招待講演)
- Year and Date
  2010-10-04
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] インフルエンザ脳症と代謝異常症の関連について2010
- Author(s)
  内田由里, 長谷川有紀, 虫本雄一, 高橋知男, 小林弘典, 山口清次
- Organizer
  第85回山陰小児科学会
- Place of Presentation
  松江テルサ(松江市)
- Year and Date
  2010-04-04
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Japan MSMS pilot-how to turn pilot into NBS program2010
- Author(s)
  Yamaguchi S
- Organizer
  Annual Newborn Screening Seminar 2010
- Place of Presentation
  Naantali SPA Hotel, Naantali, Finland(招待講演)
- Year and Date
  2010-06-21
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] インフルエンザ脳症と代謝異常症の関連について2010
- Author(s)
  内田由里, 長谷川有紀, 虫本雄一, 高橋知男, 小林弘典, 山口清次
- Organizer
  第85回山陰小児科学会
- Place of Presentation
  松江テルサ、松江市
- Year and Date
  2010-04-04
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] 質量分析を用いたメタボロミクス解析による先天代謝異常の診断、病態評価2010
- Author(s)
  山口清次
- Organizer
  第2回臨床メタボロミクス研究会
- Place of Presentation
  神戸大学医学部、神戸市(招待講演)
- Year and Date
  2010-11-30
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Organic acidemia and its treatment in JAPAN2010
- Author(s)
  Yamaguchi S
- Organizer
  7th Asia-pacific regional meeting of the international society for neonatal screening
- Place of Presentation
  Discovery Kartika Plaza, Kuta Bali, Indonesia(招待講演)
- Year and Date
  2010-10-05
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] わが国のタンデムマス・スクリーニングの現状と今後の展望2010
- Author(s)
  山口清次
- Organizer
  第37回日本マス・スクリーニング学会
- Place of Presentation
  ワークピア横浜、横浜市(招待講演)
- Year and Date
  2010-08-28
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Effect of heat stress and bezafibrate on mitochondrial fatty acid oxidation(FAO) in FAO disorders : evaluation by in vitro probe acylycarnitine assay Society for the study of inborn errors of metabolism2010
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukuda S
- Organizer
  The Istanbul Convention and Exhibition Center
- Place of Presentation
  Istanbul, Turkey
- Year and Date
  2010-08-31
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] 末梢リンパ球とタンデム質量分析を用いた簡便な脂肪酸代謝異常症の酵素活性評価2010
- Author(s)
  虫本雄一, 小林弘典, 長谷川有紀, 李紅, プレブスレンジャミヤン, 山口清次
- Organizer
  第113回日本小児科学会
- Place of Presentation
  盛岡市民文化ホール(盛岡市)
- Year and Date
  2010-04-23
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Organic acidemia and its treatment in JAPAN2010
- Author(s)
  Yamaguchi S
- Organizer
  7th Asia-pacific regiollal meeting of the international society for neonatal screening
- Place of Presentation
  Discovery Kartika Plaza, Kuta Bali, Indonesia(招待講演)
- Year and Date
  2010-10-05
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] グルタル酸血症1型日本人症例の発症形態と臨床像のまとめ2010
- Author(s)
  虫本雄一, 長谷川有紀, 小林弘典, プレブスレンジャミヤン, 山口清次
- Organizer
  第52回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪市
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] Acute encephalopathy due to emetic toxin of bacillus cereus and mitochondrial fatty acid oxidation disturbance2010
- Author(s)
  Purevsuren J, 長谷川有紀, 山口清次
- Organizer
  第42回日本小児感染症学会
- Place of Presentation
  仙台国際センター(仙台市)
- Year and Date
  2010-11-27
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] 質量分析を用いたメタボロミクス解析による先天代謝異常の診断、病態評価2010
- Author(s)
  山口清次
- Organizer
  第2回臨床メタボロミクス研究会
- Place of Presentation
  神戸大学医学部、神戸市(招待講演)
- Year and Date
  2010-11-30
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 末梢リンパ球とタンデム質量分析を用いた簡便な脂肪酸代謝異常症の酵素活性評価2010
- Author(s)
  虫本雄一, 小林弘典, 長谷川有紀, 李紅, プレブスレンジャミヤン, 山口清次
- Organizer
  第113回日本小児科学会
- Place of Presentation
  盛岡市民文化ホール、盛岡市
- Year and Date
  2010-04-23
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Effect of heat stress and bezafibrate on mitochondrial fatty acid oxidation (FAO) in FAO disorders : evaluation by in vitro probe acylcarnitine assay2010
- Author(s)
  Yamaguchi S, Li H, et.al.
- Organizer
  Society for the study of inborn errors of metabolism
- Place of Presentation
  The Istanbul Convention and Exhibition Center, Istanbul, Turkey
- Year and Date
  2010-08-31
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Present situation of expanded newborn screening in Japan, and collaboration with Asian countries.2010
- Author(s)
  Yamaguchi S
- Organizer
  International Forum of Child Intractable Diseases
- Place of Presentation
  東京プリンスホテル、東京都(招待講演)
- Year and Date
  2010-07-18
- Data Source
  KAKENHI-PROJECT-22390208
[Presentation] 質量分析を用いたメタボロミクス解析による先天代謝異常の診断、病態評価2010
- Author(s)
  山口清次
- Organizer
  第2回臨床メタボロミクス研究会講演
- Place of Presentation
  神戸大学医学部(神戸市)
- Year and Date
  2010-11-30
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Newborn screening in Japan : introduction of tandem mass spectrometry and diagnostic supports2008
- Author(s)
  Yamaguchi S
- Organizer
  2008 SCL International Symposium
- Place of Presentation
  Seoul
- Year and Date
  2008-09-04
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] Clinical and biochemical approaches to inherited metabolic diseases of organic & fatty acids2008
- Author(s)
  Sei ji Yamaguchi
- Organizer
  The Inborn Metabolic Error Disorder Workshop
- Place of Presentation
  Hanoi
- Year and Date
  2008-08-04
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] 有機酸・脂肪酸代謝異常症の新生児期発症例の臨床所見と予後2008
- Author(s)
  山口清次
- Organizer
  第44回日本周産期・新生児医学会総会
- Place of Presentation
  横浜
- Year and Date
  2008-07-14
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] 新しい新生児マス・スクリーニングの臨床的意義2008
- Author(s)
  山口清次
- Organizer
  第35回日本マス・スクリーニング学会・第30回技術部会教育講演
- Place of Presentation
  松江
- Year and Date
  2008-08-30
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] 質量分析の新生児マススクリーニングへの応用2008
- Author(s)
  山口清次
- Organizer
  第56回質量分析総合討論会シンポジウム
- Place of Presentation
  つくば
- Year and Date
  2008-05-15
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] Restructuring of the neonatal mass screening of Japan(in Japanese)2007
- Author(s)
  Yamaguchi, S
- Organizer
  110th Annual conference of Japanese Snriptv of Pediatrics
- Place of Presentation
  Kyoto
- Year and Date
  2007-04-21
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Newborn screening in Japan : Restructuring for the new era2007
- Author(s)
  Yamaguchi, S
- Organizer
  6th Asia-Pacific Regional Meeting International Society for Neonatal Screening
- Place of Presentation
  Singapore
- Year and Date
  2007-08-30
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] タンデムマス導入を機に進める新生児スクリーニング体制の立て直し2007
- Author(s)
  山口清次
- Organizer
  第34回日本マス・スクリーニング学会シンポジウム
- Place of Presentation
  千葉
- Year and Date
  2007-09-09
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] わが国の新しい新生児マススクリーニングの体制作り2007
- Author(s)
  山口清次
- Organizer
  第110回日本小児科学会ワークショップ
- Place of Presentation
  京都
- Year and Date
  2007-04-21
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Retrospective study of neonatal blood filter papers from children with inherited metabolic diseases detected after onset in infancy and childhood. (in Japanese)2007
- Author(s)
  Yamaguchi, S
- Organizer
  52nd Annual conference of japan Society for Premature and Newborn Medicine
- Place of Presentation
  Takamatsu
- Year and Date
  2007-11-25
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Standard treatments for mitochondrial fatty acid disorders. (in Japanese)2007
- Author(s)
  Yamaguchi, S
- Organizer
  49th Annual Conference of Inborn Metabolic Diseases
- Place of Presentation
  Yamagata
- Year and Date
  2007-11-15
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Newborn screening in Japan: Restructuring for the new era2007
- Author(s)
  Yamaguchi S
- Organizer
  6th Asia-Pacific Regional Meeting International Society for Neonatal Screening
- Place of Presentation
  Singapore
- Year and Date
  2007-08-30
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] 大きく変わろうとしている新生児マス・スクリーニング2007
- Author(s)
  山口清次
- Organizer
  第43回日本周産期・新生児医学会総会および学術集会
- Place of Presentation
  東京
- Year and Date
  2007-07-09
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] わが国の新しい新生児マススクリーニングの体制作り2007
- Author(s)
  山口清次
- Organizer
  第110回日本小児科学会
- Place of Presentation
  京都
- Year and Date
  2007-04-21
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] わが国の新しい新生児マススクリーニングの体制作り2007
- Author(s)
  山口清次
- Organizer
  第110回日本小児科学会ワークショップ
- Place of Presentation
  京都
- Year and Date
  2007-04-21
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] 脂肪酸代謝異常症の診断と治療のスタンダード2007
- Author(s)
  山口清次
- Organizer
  第49回日本先天代謝異常学会
- Place of Presentation
  山形
- Year and Date
  2007-11-15
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] 脂肪酸代謝異常症の診断と治療のスタンダード2007
- Author(s)
  山口清次
- Organizer
  第49回日本先天代謝異常学会 Plenary Lecutre
- Place of Presentation
  山形
- Year and Date
  2007-11-15
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Study on organic and fatty acid disorders in Shimane University2007
- Author(s)
  Yamaguchi S
- Organizer
  East China Metabolic Meeting
- Place of Presentation
  Shanghai
- Year and Date
  2007-05-28
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Study on organic and fatty acid disorders in Shimane University2007
- Author(s)
  Yamaguchi S
- Organizer
  East China Metabolic Meeting
- Place of Presentation
  Shanghai
- Year and Date
  2007-05-28
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] 大きく変わろうとしている新生児マス・スクリーニング2007
- Author(s)
  山口清次
- Organizer
  第43回日本周産期・新生児医学会総会
- Place of Presentation
  東京
- Year and Date
  2007-07-09
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] タンデムマス導入を機に進める新生児スクリーニング体制の立て直し2007
- Author(s)
  山口清次
- Organizer
  第34回日本マス・スクリーニング学会シンポジウム
- Place of Presentation
  千葉
- Year and Date
  2007-09-09
- Data Source
  KAKENHI-PROJECT-18659303
[Presentation] Tremendously changing the neonatal screening of Japan. (in Japanese)2007
- Author(s)
  Yamaguchi, S
- Organizer
  43rd Annual conference of Perinatal and Neonatal Medicine
- Place of Presentation
  Tokyo
- Year and Date
  2007-07-09
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] タンデムマス新生児スクリーニングにおける新生児ガスリーろ紙の有用性:後方視的検討2007
- Author(s)
  山口清次
- Organizer
  第52回日本未熟児新生児学会
- Place of Presentation
  高松
- Year and Date
  2007-11-25
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Sudden Infant death and inborn errors of metabolism2006
- Author(s)
  Yamaguchi S
- Organizer
  The 9th SIDS International Conference
- Place of Presentation
  Yokohama
- Year and Date
  2006-06-02
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Inherited metabolic disorder of organic and fatty acids : A causative disorder of unexpected acute encephalopathy or sudden death in childhood2006
- Author(s)
  Yamaguchi, S
- Organizer
  The 10th Vietnam Pediatric Congress
- Place of Presentation
  Hanoi, Vietnam
- Year and Date
  2006-05-04
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Inherited metabolic disorder of organic and fatty acids: A causative disorder of unexpected acute encephalopathy or sudden death in childhood2006
- Author(s)
  Yamaguchi S
- Organizer
  The 10th Vietnam Pediatric Congress
- Place of Presentation
  Hanoi, Vietnam
- Year and Date
  2006-05-04
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Significance of Early Detection of Organic and Fatty Acid Disorders Using Mass Scpetrometry (GC/MS and Tandem MS): Current Trend in Newborn Mass Screening2005
- Author(s)
  Yamaguchi S
- Organizer
  3rd Vietnam Diabetes and Endocrinology Meeting (Special Lecture)
- Place of Presentation
  Hue, Vietnam
- Year and Date
  2005-04-14
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Survey of Mitochondrial Fatty Acid Oxidation Disorders (FAODs) (in Japanese)2005
- Author(s)
  Yamaguchi S
- Organizer
  6th International Congress on Fatty Acid Oxidation
- Place of Presentation
  Egmond aan Zee, The Netherlands
- Year and Date
  2005-06-09
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Significance of Early Detection of Organic and Fatty Acid Disorders Using Mass Scpetrometry (GC/MS and Tandem MS) : Current Trend in Newborn Mass Screening2005
- Author(s)
  Yamaguchi, S
- Organizer
  3rd Vietnam. Diabetes and Endocrinology Meeting (Special Lecture)
- Place of Presentation
  Hue, Veitnam
- Year and Date
  2005-04-14
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Clinical and Molecular Aspects of VLCAD Deficiency and Glutaric acidemia Type II in Japanese2005
- Author(s)
  Yamaguchi S
- Organizer
  42nd Annual symposium of SSIEM
- Place of Presentation
  Paris, France
- Year and Date
  2005-09-07
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Survey of Mitochondrial Fatty Acid Oxidation Disorders (FAODs) in Japanese2005
- Author(s)
  Yamaguchi S
- Organizer
  6th International Congress on Fatty Acid Oxidation
- Place of Presentation
  Egmond aan Zee, The Netherlands
- Year and Date
  2005-06-09
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Clinical Picture and Approach to Organic and Fatty Acid Disorders2005
- Author(s)
  Yamaguchi S
- Organizer
  6th Vietnam Pediatric Meeting (Symposium of Inborn Errors of Metabolism)
- Place of Presentation
  Hanoi, Vietman
- Year and Date
  2005-04-16
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Significance of newborn mass screening for fatty acid disorders to prevent children from sudden infant death or acute encephalopathyof unknown origin2005
- Author(s)
  Yamaguchi S
- Organizer
  6th Vietnam Pediatric Meeting (Special Lecture)
- Place of Presentation
  Hanoi, Vietman
- Year and Date
  2005-04-16
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Significance of newborn mass screening for fatty acid disorders to prevent children from sudden infant death or acute encephalopathyof unknown origin2005
- Author(s)
  Yamaguchi, S
- Organizer
  6th Vietnam. Pediatric Meeting (Special Lecture)
- Place of Presentation
  Hanoi, Vietman
- Year and Date
  2005-04-16
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Clinical and Molecular Aspects of VLCAD Deficiency and Glutaric acidemia Type If (in Japanese)2005
- Author(s)
  Yamaguchi, S
- Organizer
  42nd Annual symposium of SSIEM
- Place of Presentation
  Paris, France
- Year and Date
  2005-09-07
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390302
[Presentation] Improvement of fatty acid oxidation capacity of cells from fatty acid oxidation defects at low temperature: evaluation by in vitro probe assay
- Author(s)
  Yamaguchi S, Liu L, Furui M, Yamada K, Taketani T, Shibata N, Kobayashi H, Hasegawa Y, Fukuda S
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
- Place of Presentation
  Congress Innsbruck, Innsbruck, Austria
- Year and Date
  2014-09-02 – 2014-09-05
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] Isolated sulfite oxidase deficiency: A rare metabolic disorder with neuroimaging mimicking perinatal asphyxia
- Author(s)
  Vatanavicharn N, Taketani T, Nabangchang C, Yamaguchi S
- Organizer
  第56回日本先天代謝異常学会
- Place of Presentation
  江陽グランドホテル、仙台
- Year and Date
  2014-11-13 – 2014-11-15
- Data Source
  KAKENHI-PROJECT-24659498
[Presentation] ラット初代培養繊維芽細胞のIVPAによる解析とミトコンドリア脂肪酸β酸化系酵素の局在
- Author(s)
  深澤元晶、臼田信光、厚沢季美江、古居みどり、橋本隆、山口清次
- Organizer
  第12回アジア先天代謝異常症シンポジウム
- Place of Presentation
  宮城県仙台市　東北大学医学部
- Year and Date
  2014-11-13 – 2014-11-15
- Data Source
  KAKENHI-PROJECT-25504016
[Presentation] 解熱剤の脂肪酸β酸化に対する影響：サリチル酸、ジクロフェナクナトリウム、アセトアミノフェンの評価
- Author(s)
  高橋知男, 坊亮輔, 山田健治, 小林弘典, 長谷川有紀, 山口清次
- Organizer
  第56回日本先天代謝異常学会
- Place of Presentation
  江陽グランドホテル、仙台
- Year and Date
  2014-11-13 – 2014-11-15
- Data Source
  KAKENHI-PROJECT-24659498

1. KIMURA Masahiko (00263533)

# of Collaborated Projects: 6 results

# of Collaborated Products: 0 results
2. FUKAO Toshiyuki (70260578)

# of Collaborated Projects: 5 results

# of Collaborated Products: 6 results
3. ORII Tadao (20045339)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
4. SUZUKI Yasuyuki (00163014)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
5. HASEGAWA Yuki (00362921)

# of Collaborated Projects: 2 results

# of Collaborated Products: 20 results
6. HASHIMOTO Takashi (80009935)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
7. KUSUHARA Koichi (20243941)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. SHIMONO Masayuki (00248569)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. HOSHINA Takayuki (30398078)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. INOUE Hirosuke (90467902)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. YOSHIKAWA Tetsushi (80288472)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. ICHIYAMA Takashi (20263767)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. SHIMAKAWA Shuichi (40465620)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. KOBAYASHI Hironori (70397868)

# of Collaborated Projects: 1 results

# of Collaborated Products: 20 results
15. MUSHIMOTO Yuichi (90467712)

# of Collaborated Projects: 1 results

# of Collaborated Products: 17 results
16. SUKEGAWA Kazuko (60115409)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. HANEDA Noriyuki (20127525)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. OHIE Takaharu (00233023)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. OZASA Hiroshi (70243425)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. SEIJIMA Hitoshi (00261222)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. IZUMI Nobuo (00129040)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
22. SAWADA Jun (10079874)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
23. KONDO Naomi (50124714)

# of Collaborated Projects: 1 results

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24. OHURA Toshihiro (10176828)

# of Collaborated Projects: 1 results

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25. KURE Shigeo (10205221)

# of Collaborated Projects: 1 results

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26. SAKAMOTO Osamu (20333809)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
27. USUDA Nobuteru (30135123)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
28. FUKASAWA Motoaki (70387728)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
29. MORIYAMA Yohsuke (00452532)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
30. ATSUZAWA Kimie (60387727)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
31. TANAKA Masashi (60155166)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
32. SHIMOMURA Atsushi (50340237)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
33. 菊池清 (20161416)

# of Collaborated Projects: 1 results

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34. 伊藤正利 (90135567)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
35. 竹谷健 (30359880)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
36. YAMAMOTO Takashi

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
37. YAMADA Kenji

# of Collaborated Projects: 1 results

# of Collaborated Products: 45 results
38. FURUI Midori

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
39. PUREVSUREN Jamiyan

# of Collaborated Projects: 1 results

# of Collaborated Products: 14 results
40. TAKUMA Hiroshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. OKADA Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
42. TSUMURA Miyuki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
43. MATSUSHIMA Yuichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
44. GOTO Yu-ichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
45. NOMURA NORIKO

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
46. FUKUSHI DAISUKE

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
47. YOKOCHI KENJI

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
48. SHIRAISHI Hideaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
49. HITOMI Hirofumi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
50. 中馬越清隆

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
51. 玉岡晃

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
52. 新井田要

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
53. 福田冬季子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
54. 杉江秀夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
55. 佐藤憲子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
56. 山田憲一郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
57. 若松延昭

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
58. 山田裕一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
59. 安野哲彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMAGUCHI Seiji 山口 清次

Research Projects

Research Products

Co-Researchers

Study of diversity in organic and fatty acid disorders in AsiaPrincipal InvestigatorOngoing

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Review Section

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Study of pathophysiology of acute encephalopathy in childhood due to fatty acid oxidation disturbance and development of new treatmentsPrincipal Investigator

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Development of a method to evaluate the fatty acid oxidation impairment by infection using cultured cells and tandem mass spectrometry, in childrenPrincipal Investigator

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Study on relation between acute encephalopathy in childhood and causative disorders of organic and fatty acid metabolismPrincipal Investigator

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Development of evaluation method of drug safety for children using cultured cells and tandem mass spectrometryPrincipal Investigator

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Fast-GC/MSを導入した迅速、高感度、高精度の代謝異常診断システムの開発Principal Investigator

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Study of metabolic screening, diagnosis, evaluation of treatment, and molecular analysis for organic and fatty acid disordersPrincipal Investigator

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タンデム型質量分析法を用いたリピドーシス診断の検討Principal Investigator

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飛行時間型質量分析(DE MALDI TOF/MS)のリピドーシス診断への応用Principal Investigator

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Clinical and molecular study on Japanese patients with mitochondrial β-oxidation disordersPrincipal Investigator

Principal Investigator

YAMAGUCHI Seiji 山口清次