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

Research Project

Project/Area Number 22390208
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionShimane University

Principal Investigator

YAMAGUCHI Seiji  島根大学, 医学部, 教授 (60144044)

Co-Investigator(Renkei-kenkyūsha) FUKAO Toshiyuki  岐阜大学, 大学院・医学系研究科, 教授 (70260578)
Project Period (FY) 2010-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥13,390,000 (Direct Cost: ¥10,300,000、Indirect Cost: ¥3,090,000)
Fiscal Year 2013: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2012: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2011: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2010: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Keywordsミトコンドリアβ酸化 / 脂肪酸代謝異常症 / 急性脳症 / in vitro probe assay / 分子解析 / ベザフィブラート / 細菌毒素 / 環境温度 / 全身性カルニチン欠乏症 / 有機酸血症 / 脂肪酸代謝異常 / MCAD欠損症 / β酸化能
Research Abstract

Acute encephalopathy of various causes like hyperpyrexia or infection is not rare in childhood. We studied the relation between acute encephalopathy and disorders of organic and fatty acid metabolism to develop the biochemical and molecular diagnostic system, and made a diagnosis on over 74 cases with disorders of organic and fatty acid metabolism.
We investigated the mechanism of acute encephalopathy in case of food poisoning in view of fatty acid oxidation impairment, and found that the acute encephalopathy was caused by temporary disturbance of fatty acid oxidation by the toxin. Furthermore, we developed a new therapy with bezafibrate for fatty acid oxidation disorders, using the in vitro probe assay, using cultured cells and tandem mass spectrometry.

Report

(5 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (110 results)

All 2014 2013 2012 2011 2010

All Journal Article (30 results) (of which Peer Reviewed: 19 results) Presentation (73 results) (of which Invited: 11 results) Book (7 results)

  • [Journal Article] Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan2013

    • Author(s)
      Purevusren J, et al
    • Journal Title

      日本マス・スクリーニング学会誌

      Volume: 23 Pages: 270-276

    • URL

      http://mol.medicalonline.jp/library/journal/download?GoodsID=dc9massc/2013/002303/004&name=0270-0276e&UserID=202.250.215.249&base=jamas_pdf

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [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/

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Intracellular in vitro probe acylcarnitine assay for identifying deficiencies ofcarnitine transporter and carnitine palmitoyltransferase-12013

    • Author(s)
      Purevsuren J
    • Journal Title

      Anal Bioanal Chem

      Volume: 405 Issue: 4 Pages: 1345-1351

    • DOI

      10.1007/s00216-012-6532-3

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: A previously unrecognized complication2013

    • Author(s)
      Ihara K
    • Journal Title

      Pediatrics

      Volume: 131 Issue: 1 Pages: e327-e330

    • DOI

      10.1542/peds.2012-0030

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2012 Annual Research Report
  • [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

    • Related Report
      2012 Annual Research Report
  • [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

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders : Evaluation by in vitro probe acylcarnitine assay2012

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

      Mol Genet Metab

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

    • DOI

      10.1016/j.ymgme.2012.07.004

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency2012

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

      Mol Genet Metab

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

    • DOI

      10.1016/j.ymgme.2012.06.010

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2012 Annual Research Report
  • [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

    • Related Report
      2012 Annual Research Report
  • [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

    • Related Report
      2012 Annual Research Report
  • [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

    • Related Report
      2012 Annual Research Report
  • [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

    • Related Report
      2011 Annual Research Report
  • [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

      Mol Genet Metab

      Volume: 102 Issue: 3 Pages: 343-348

    • DOI

      10.1016/j.ymgme.2010.11.159

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [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

      Molecular Genetics and Metabolism

      Volume: 102 Issue: 4 Pages: 399-406

    • DOI

      10.1016/j.ymgme.2010.12.004

    • Related Report
      2013 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [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

      Molecular Genetics and Metabolism

      Volume: 104 Issue: 4 Pages: 556-559

    • DOI

      10.1016/j.ymgme.2011.09.025

    • Related Report
      2013 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2011 Annual Research Report
  • [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

    • Related Report
      2011 Annual Research Report
  • [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

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [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, Yamaguchi S (7/7), et al
    • Journal Title

      Brain Dev

      Volume: 32 Issue: 5 Pages: 362-370

    • DOI

      10.1016/j.braindev.2009.06.001

    • NAID

      10027491314

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [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, Yamaguchi S (9/9), et al
    • Journal Title

      J Chromatogr B

      Volume: 878 Issue: 20 Pages: 1673-1676

    • DOI

      10.1016/j.jchromb.2010.03.029

    • NAID

      10028037822

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [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, Yamaguchi S (7/7), et al
    • Journal Title

      J Chromatogr B

      Volume: 878 Issue: 20 Pages: 1669-1672

    • DOI

      10.1016/j.jchromb.2010.01.046

    • NAID

      10028037801

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [Presentation] The firse case of HSD10 disease (2-Methyl-3-Hydroxybutyryl-coA dehydrogenase deficiency) from Asia2013

    • Author(s)
      Fukao T, Akida K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Hasegawa Y, Shigematsu Y, Ohtake A, Moriyama Y, Usuda N, Hsegawa Y
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
    • Place of Presentation
      Tokyo Bay Maihama Hotel Club Resort, Chiba
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
    • Invited
  • [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
    • Related Report
      2013 Annual Research Report
  • [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クラウンプラザホテル金沢、他、金沢
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2013 Final Research Report 2012 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
  • [Presentation] Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydroge (MCAD) deficiency2012

    • Author(s)
      Prevsuren J
    • 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
    • Related Report
      2012 Annual Research Report
  • [Presentation] Beneficial effect of bezafibrate on boy with the late-onset gluraric aciduria type 22012

    • Author(s)
      Kobayashi H
    • 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
    • Related Report
      2012 Annual Research Report
  • [Presentation] Chemical diagnosis of methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency: A first case report in east Asia2012

    • Author(s)
      Takahashi T
    • 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
    • Related Report
      2012 Annual Research Report
  • [Presentation] Application of in-vitro probe acylcarnitine assay using tandem mass spectrometry for the evaluation of mitochondrial fatty acid oxidation2012

    • Author(s)
      Prevsuren J
    • Organizer
      19th International Mass Spectrometry Conference
    • Place of Presentation
      京都国際会議場、京都
    • Related Report
      2012 Annual Research Report
  • [Presentation] グルタル酸血症2型に対するベザフィブラートの有効性:in vitro probe assayの応用2012

    • Author(s)
      山田健治
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡国際会議場、福岡
    • Related Report
      2012 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
    • Invited
  • [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
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 新生児発症型グルタル酸血症2型に対するベザフィブラートの有効性の検討: In vitro probe acylcarnitine assasy の結果との関連性2012

    • Author(s)
      山田健治
    • 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
    • Related Report
      2012 Annual Research Report
  • [Presentation] アスピリンとβ酸化機能の関連性の検討:in vitro probe assay による評価2012

    • Author(s)
      高橋知男
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [Presentation] 成人期に発症した「骨格筋型」グルタル酸尿症2型の2例2012

    • Author(s)
      山田健治
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [Presentation] ベザフィブラート内服と中心静脈高濃度糖輸液が有効であった幼児期発症ミトコンドリア三頭酵素欠損症の1例2012

    • Author(s)
      花川純子
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [Presentation] ベザフィブラートにより骨格筋症状が改善した極長鎖アシルCoA脱水素酵素欠損症の1例2012

    • Author(s)
      八木麻理子
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [Presentation] Metabolic autopsy を用いた突然死症例の検討 ~脂肪酸代謝異常症の観点から~2012

    • Author(s)
      山本琢磨
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [Presentation] Ornithine transcarbamylase (OTC) 欠損症に潜在する凝固異常2012

    • Author(s)
      井原健二
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [Presentation] 新生児期発症でGA2と診断され、生後5ヶ月よりBEZ投与を開始した二絨毛膜二羊膜双胎例2012

    • Author(s)
      大塚博樹
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      じゅうろくプラザ、岐阜
    • Related Report
      2012 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
  • [Presentation] ピボキシル基を含む抗菌薬によりカルニチン欠乏症をきたした24例の臨床像2012

    • Author(s)
      小林弘典
    • Organizer
      第64回中国四国小児科学会
    • Place of Presentation
      阿波観光ホテル、徳島
    • Related Report
      2012 Annual Research Report
  • [Presentation] ベザフィブラートが有効であった遅発型クルクル酸尿症2型の男児例2011

    • Author(s)
      小林弘典
    • 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
    • Related Report
      2011 Annual Research Report
  • [Presentation] 日本人HMG-CoAリアーゼ欠損症の臨床像:研究班におけるアンケート調査結果から2011

    • Author(s)
      深尾敏幸
    • Organizer
      第53回日本先天性代謝異常学会
    • Place of Presentation
      ホテルニューオータニ幕張(千葉市)
    • Year and Date
      2011-11-25
    • Related Report
      2011 Annual Research Report
  • [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
    • Organizer
      第53回日本先天性代謝異常学会
    • Place of Presentation
      ホテルニューオータニ幕張(千葉市)
    • Year and Date
      2011-11-25
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [Presentation] Emetic toxin of bacillus cereus that associates with reye-like syndrome severely inhibits mitochondrial fatty acid oxidation2011

    • Author(s)
      Purevsuren J
    • Organizer
      Annual Symposium of the Society for the Study of Inborn Errors of Matabolism
    • Place of Presentation
      International Conference Center Geneva, Switzerland
    • Year and Date
      2011-08-31
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
  • [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
    • Related Report
      2012 Annual Research Report
  • [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
    • Related Report
      2011 Annual Research Report
  • [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
    • Related Report
      2010 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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