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

• Project/Area Number: 15K09593
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Shimane University
• Principal Investigator: Yamaguchi Seiji 島根大学, 学術研究院医学・看護学系, 特任教授 (60144044)
• Research Collaborator: YAMADA Kenji ; FURUI Midori
• Project Period (FY): 2015-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000); Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 小児急性脳症 / β酸化障害 / 環境温度 / 感染毒素 / 解熱剤 / サイトカイン / タンデムマス / in vitro probe assay / β酸化異常 / 急性脳症 / 温度環境 / β酸化異常症 / 骨格筋障害 / タンデムマス法 / ベザフィブラート / カルニチン療法 / 代謝性筋障害 / タンデムマス・スクリーニング / ベザフィブラーと / TFP欠損症 / VLCAD欠損症 / グルタル酸血症Ⅱ型

Outline of Final Research Achievements

Acute encephalopathy or sudden infant death are relatively often noted in children with fatty acid oxidation (FAO) disorder. On the other hand, acquired encephalopathy can be caused by infection, intoxication, environmental factor, or metabolic diseases. In this study, relation between the encephalopathy and disturbance of FAO was studied. The results are as follows: 1) heat stress may inhibit FAO, while low temperature might alleviate the FAO disturbance; 2) A toxin of food intoxication may possibly inhibit FAO function; 3) an antipyretic, salicylate (Aspirin), inhibited FAO, while acetaminophen did not; 4) Some cytokines, IL1 or TNFa had an inhibitory effect to FAO, while INFg or IL6 did no effects. It is concluded that acute encephalopathy in childhood could occur through an inhibition of FAO in a considerable number of cases. These findings may be helpful to develop new approaches for prevention or treatments.

Academic Significance and Societal Importance of the Research Achievements

小児は、成人に比べ急性脳症を起こしやすい。急性脳症を起こす要因として考えられている感染、中毒、環境因子、代謝障害などが、β酸化系の障害を介して起こる可能性が示された。小児で急性脳症の起こりやすい要因としてβ酸化系の未発達、脆弱性も考えられる。今回検討した各種要因を今後さらに拡大してβ酸化抑制作用、保護作用の強さを検討する価値が十分にある。
急性脳症の予防、治療開発の方向性として、各病態におけるβ酸化系抑制を防止する対策、すなわち、高温にさらさないこと、解熱剤の選択に注意を払うこと、また特定のサイトカインの抑制薬の開発、β酸化系保護剤の開発などが期待される。

Research Products

• [Int'l Joint Research] Kim Sook Za Human Genetics Laboratiry(韓国)
• [Int'l Joint Research] Hanoi Children's Hospital(ベトナム)
• [Int'l Joint Research] Sir Gangaram Institute(India)
• [Int'l Joint Research] KSZ研究所(韓国)
• [Int'l Joint Research] マヒドン大学シラジ病院(タイ)
• [Int'l Joint Research] メルボルン・新生児スクリーニング研究所(オーストリア)
• [Int'l Joint Research] パリ・サンペレ大学(フランス)
• [Journal Article] Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan (2018)
  • 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: Molecular Genetics and Metabolism Reports Volume: 15 Pages: 55-63
  • DOI: 10.1016/j.ymgmr.2018.02.003
  • NAID: 120006491518
  • Peer Reviewed / Open Access
• [Journal Article] Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l -carnitine supplementation (2018)
  • Author(s): Watanabe Kenji、Yamada Kenji、Sameshima Koji、Yamaguchi Seiji
  • Journal Title: Molecular Genetics and Metabolism Reports Volume: 15 Pages: 121-123
  • DOI: 10.1016/j.ymgmr.2018.03.007
  • Peer Reviewed / Open Access
• [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 screening (2018)
  • 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: Molecular Genetics and Metabolism Reports Volume: 16 Pages: 5-10
  • DOI: 10.1016/j.ymgmr.2018.05.003
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases (2017)
  • 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: Journal of Human Genetics Volume: 62 Issue: 9 Pages: 809-814
  • DOI: 10.1038/jhg.2017.52
  • Peer Reviewed / Open Access
• [Journal Article] Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay. (2017)
  • 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 Issue: 1 Pages: 48-27
  • DOI: 10.1016/j.braindev.2016.08.004
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth (2017)
  • 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
• [Journal Article] Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity (2017)
  • 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: Molecular Genetics and Metabolism Volume: 122 Issue: 3 Pages: 67-75
  • DOI: 10.1016/j.ymgme.2017.07.011
  • Peer Reviewed / Open Access
• [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
• [Journal Article] A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis (2016)
  • 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 / Open Access
• [Journal Article] Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases. (2016)
  • 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 Dev. Volume: 38 Issue: 3 Pages: 293-301
  • DOI: 10.1016/j.braindev.2015.08.011
  • Peer Reviewed
• [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: J Pediatr. Volume: April Pages: 183-187
  • DOI: 10.1016/j.jpeds.2016.02.080
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [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: Journal of the Neurological Sciences Volume: 368 Pages: 165-167
  • DOI: 10.1016/j.jns.2016.07.007
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism (2016)
  • 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 / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Carnitine-acylcarnitine translocase deficiency: two neonatal cases with common splicing mutation and in vitro bezafibrate response (2015)
  • 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
  • Peer Reviewed / Open Access
• [Journal Article] Acute myositis associated with concurrent infection of rotavirus and norovirus in a 2-year-old girl (2015)
  • Author(s): Yamamoto K, Fukuda S, Mushimoto Y, Minami N, Kanai R, Tsukamoto K, Yamaguchi S
  • Journal Title: Pediatric Reports Volume: 7 Issue: 3 Pages: 51-53
  • DOI: 10.4081/pr.2015.5873
  • Peer Reviewed / Open Access
• [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: Journal of Medical Genetics Volume: 52 Issue: 10 Pages: 691-698
  • DOI: 10.1136/jmedgenet-2015-103231
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Elevation of pivaloylcarnitine by sivelestat sodium in two children (2015)
  • Author(s): Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa T, Nakamura M, Ishige N, Yamaguchi S
  • Journal Title: Molecular Genetics and Metabolism Volume: 116 Issue: 3 Pages: 192-194
  • DOI: 10.1016/j.ymgme.2015.09.009
  • Peer Reviewed / Open Access
• [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
• [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 acidemias (2018)
  • 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
• [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
• [Presentation] Newborn screening and collaboration with Asia (2018)
  • Author(s): Yamaguchi S
  • Organizer: 2nd Nutrimet of Indonesia
  • Int'l Joint Research
• [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
• [Presentation] Diversity in disease distribution of targets in the TMSScreening in ASIA and prenatal diagnosis for severe cases (2017)
  • Author(s): Yamaguchi S
  • Organizer: International Conference of the Indian Society of Inborn Errors of Metabolism (ISIEM 2017)
  • Int'l Joint Research
• [Presentation] Prenatal diagnosis for severe cases of targets in expanded newborn screening (2017)
  • 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
• [Presentation] Cerebral organic acidemia: simple screening for ECHS1 defect by GC/MS analysis (2017)
  • Author(s): Yamaguchi S
  • Organizer: 12th Asia-Pacific Conference on Human Genetics
  • Int'l Joint Research
• [Presentation] Progress in detection and treatment for inborn metabolic diseases (2016)
  • Author(s): Yamaguchi S
  • Organizer: Annual Meeting of Vietnamese Pediatric Association
  • Place of Presentation: Hanoi, Vietnam
  • Year and Date: 2016-11-03
  • Int'l Joint Research / Invited
• [Presentation] Distribution, incidence and molecular aspects of target diseases of expanded newborn screening using MS/MS in Japan (2016)
  • 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
• [Presentation] Clinical and genetic aspects of 50 Japanese cases of VLCAD deficiency (2016)
  • 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
• [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
  • Int'l Joint Research / Invited
• [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 Genetics (2016)
  • 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
• [Presentation] Prenatal diagnosis for severe forms of organic acidemias and fatty acid oxidation defects which are targets of expanded newborn screening (2015)
  • 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
• [Presentation] The disease distribution of organic acidemias and fatty acid oxidation defects detected in Asian countries (2015)
  • 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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [Presentation] Genetic diversity of organic and fatty acid disorders detectable in expanded newborn screening in Asian countries (2015)
  • 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
  • Int'l Joint Research / Invited
• [Presentation] Clinical and genetic investigation of Japanese 16 patients with trifunctional protein deficiency (2015)
  • 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
• [Presentation] Serum C14:1/C12:1 ratio is a sensitive diagnostic marker for VLACD deficiency (2015)
  • Author(s): Yamada K, Bo R, Kobayashi H, Hasegawa Y, Yamaguci 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
• [Presentation] Prenatal diagnosis on 143 cases with organic and fatty acid diseases by biochemical and gene analyses with amniocentesis (2015)
  • 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
• [Presentation] Leigh disease and the valine pathway (2015)
  • 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
• [Presentation] Two patients with atypical form and one with infantile form of HSD10 disease were identified in Japan (2015)
  • 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
• [Presentation] Ethylmalonic encephalopathy in an Indian boy: a report of mutations in ETHE1 gene (2015)
  • 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
• [Presentation] Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate (2015)
  • 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
• [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
• [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
• [Presentation] Fatty acid oxidation defects and its clinical significance (2015)
  • 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
  • Int'l Joint Research / Invited
• [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
• [Presentation] Inborn metabolic disease in Asia: collaborative study with mass spectrometry (2015)
  • 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
  • Int'l Joint Research / Invited
• [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