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

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

Research Project

Project/Area Number 24659498
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionShimane University

Principal Investigator

SEIJI Yamaguchi  島根大学, 医学部, 教授 (60144044)

Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords脂肪酸酸化 / セレウリド / タンデムマス法 / in vitro probe assay / 急性脳症 / 解熱剤 / heat stress / 脂肪酸β酸化 / β酸化能 / 低体温療法 / 細菌毒素 / 小児薬物 / 発熱ストレス
Outline of Final Research Achievements

The mechanism of acute encephalopathy in young children is often unknown in many cases. Onset of acute encephalopathy is not infrequently similar to that of congenital fatty acid oxidation (FAO) disorders. Influence of bacterial toxins, antipyretic drugs, or heat stress by hyperpyrexia on FAO was determined by in vitro probe (IVP) assay using cultured fibroblasts, and tandem mass spectrometry, changing the circumstance of cell culture.
The results were as follows: (i) cereulide, a toxin of Bacillus cereus, which occasionally causes acute encephalopathy in infants, disturbed FAO; (ii) heat stress possibly causes exacerbation of FAO in long-chain FAO disorders; (iii) antipyretics, salicylate (metabolites of Aspirin), and Diclofenac disturbed FAO in normal control cells, while acetaminophen did not. These findings may be consistent with clinical observation. The above findings will be of help for prevention of acute encephalopathy in children with infectious disease and/or hyperpyrexia.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (57 results)

All 2015 2014 2013 2012

All Journal Article (15 results) (of which Peer Reviewed: 10 results,  Open Access: 2 results) Presentation (39 results) (of which Invited: 5 results) Book (3 results)

  • [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 Issue: 4 Pages: 372-377

    • DOI

      10.1111/dmcn.12617

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [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: - Issue: 7 Pages: 698-703

    • DOI

      10.1016/j.braindev.2014.10.005

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome2015

    • Author(s)
      Sakai C, Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto YI
    • Journal Title

      Human Mutation

      Volume: 36 Issue: 2 Pages: 232-239

    • DOI

      10.1002/humu.22730

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency2015

    • 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 Issue: 5 Pages: 799-802

    • DOI

      10.1111/jog.12609

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Functional Analysis of iPSC-derived Myocytes from a Patient with Carnitine Palmitoyltransferase II 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

      Biochem. and Biophys. Res. Commun

      Volume: (in press) Issue: 2 Pages: 175-181

    • DOI

      10.1016/j.bbrc.2014.04.084

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [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

    • Related Report
      2014 Annual Research Report
  • [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

    • Related Report
      2014 Annual Research Report
  • [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

    • Related Report
      2013 Research-status 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 Research-status 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 Research-status Report
  • [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
      2012 Research-status 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

    • Related Report
      2012 Research-status 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
      2012 Research-status 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
      2012 Research-status 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 Research-status Report
  • [Presentation] Isolated sulfite oxidase deficiency: A rare metabolic disorder with neuroimaging mimicking perinatal asphyxia2014

    • 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
    • Related Report
      2014 Annual Research Report
  • [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2014

    • 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
    • Related Report
      2014 Annual Research Report
  • [Presentation] Improvement of fatty acid oxidation capacity of cells from fatty acid oxidation defects at low temperature: evaluation by in vitro probe assay2014

    • 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
    • Related Report
      2014 Annual Research Report
  • [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 Research-status 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 Research-status 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 Research-status Report
    • Invited
  • [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
    • Related Report
      2013 Research-status Report
  • [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 Research-status 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
    • Related Report
      2013 Research-status Report
  • [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
    • Related Report
      2013 Research-status 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
      InterContinental RIYADH, Riyadh, Saudi Arabia
    • Related Report
      2013 Research-status 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 Research-status Report
  • [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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status Report
  • [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 Research-status 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 Research-status Report
    • Invited
  • [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 Research-status 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, symposium
    • Place of Presentation
      ロッテホテル、Seoul, Korea
    • Related Report
      2012 Research-status 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 Research-status 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 Research-status 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
    • Organizer
      Society for the Study of Inborn Errors of Metabolism Annual Symposium 2012
    • Place of Presentation
      ICC, Birminghan, UK
    • Related Report
      2012 Research-status Report
  • [Presentation] Effect of proinflammatory cytokines on mitochondrial fatty acid oxidation in development of acute encephalopathy2012

    • Author(s)
      Purevsuren J
    • Organizer
      Society for the Study of Inborn Errors of Metabolism Annual Symposium 2012
    • Place of Presentation
      ICC, Birminghan, UK
    • Related Report
      2012 Research-status 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 Research-status 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 Research-status 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 Research-status Report
  • [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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status 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 Research-status Report
  • [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
    • Related Report
      2014 Annual Research Report
  • [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
    • Related Report
      2014 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(編)
    • Total Pages
      151
    • Publisher
      診断と治療社
    • Related Report
      2013 Research-status Report

URL: 

Published: 2013-05-31   Modified: 2019-07-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi