Yamada Kenji 山田健治

Researcher Number	70624930
Other IDs
Affiliation (Current)	2025: 島根大学, 医学部, 特別協力研究員
Affiliation (based on the past Project Information) *help	2021 – 2024: 島根大学, 医学部, 特別協力研究員 2018 – 2020: 島根大学, 学術研究院医学・看護学系, 助教 2015 – 2017: 島根大学, 医学部, 助教 2014: 島根大学, 医学部, 医科医員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Embryonic/Neonatal medicine / Pediatrics Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator in vitro probe assay / グルタル酸血症2型 / 脂肪酸代謝異常症 / CPT2欠損症 / VLCAD欠損症 / 脂肪酸代謝能 / ベザフィブラート / 重症度 / 予後 / タンデムマス分析 … More / 酵素活性 / ペマフィブラート / FAO flux / IVPアッセイ / 脂肪酸代謝 / 酵素 / iPS細胞 / in vitro prove assay / 臨床治験 / FAOフラックス / 代謝性ミオパチー … More Except Principal Investigator 脂肪酸代謝異常症 / 低ホスファターぜ症 / ミトコドリア / 先天代謝異常症 / 低ホスファターゼ症 / ミトコンドリア病 / 間葉系幹細胞 Less

Highly Purified Mesenchymal Stem Cell Therapy for Neuropathy of Congenital Metabolic Disorders Involved on Mitochondria
- Principal Investigator
  
  竹谷健
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shimane University
In vitro evaluation of fatty acid oxidation capacity for accurate prognosis of fatty acid oxidation disordersPrincipal Investigator
- Principal Investigator
  
  Yamada Kenji
- Project Period (FY)
  2019 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shimane University
Development of effective evaluation method of bezafibrate for the fatty acid metabolism disorders using the iPS cellsPrincipal Investigator
- Principal Investigator
  
  Yamada Kenji
- Project Period (FY)
  2016 – 2019
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Shimane University
Efficacy of Bezafibrate for severe form of glutaric acidemia type 2Principal Investigator
- Principal Investigator
  
  Yamada Kenji
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 Other

All Journal Article Presentation Book

[Book] 外来で見つける先天代謝異常症－シマウマ診断の勧め2023
- Author(s)
  窪田満（編集）、山田健治（執筆者）
- Total Pages
  352
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-19K08300
[Book] 小児疾患診療のための病態生理3　改訂版6版．小児内科2022 Vol.54 増刊号．2022
- Author(s)
  山田健治
- Total Pages
  1160
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-19K08300
[Book] 引いて調べる先天代謝異常症2014
- Author(s)
  山田健治
- Total Pages
  175
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-26870379
[Journal Article] A Japanese Boy With Spotted Fever and Overlapping Symptoms of Kawasaki Disease: A Case Report2024
- Author(s)
  Sasaki Kosuke、Yamada Kenji、Matama Chihiro、Koike Daisuke、Hirade Tomohiro、Mashino Junji、Kato Fumihide、Taketani Takeshi
- Journal Title
  
  Cureus
  
  Volume: -
- DOI
  10.7759/cureus.51915
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300
[Journal Article] Free Carnitine Levels During Cardiac Peri-Operative Periods with Cardiopulmonary Bypass in Pediatric Patients with Congenital Heart Diseases—Secondary Publication2023
- Author(s)
  Yuka Tanabe, Kenji Yamada, Shigeki Nakashima, Kenji Yasuda, Maiko Tachi, Yoshifumi Fujimoto, Hironori Kobayashi, Takeshi Taketani
- Journal Title
  
  Journal of Pediatric Cardiology and Cardiac Surgery
  
  Volume: 7 Issue: 1 Pages: 18-26
- DOI
  10.24509/jpccs.22-015
- ISSN
  2433-1783, 2433-2720
- Year and Date
  2023-03-31
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08300
[Journal Article] 人工心肺を用いた小児心臓周術期における遊離カルニチン濃度の検討2022
- Author(s)
  田部有香，山田健治，中嶋滋記，安田謙二，城麻衣子，藤本欣史，小林弘典，竹谷健．
- Journal Title
  
  日本小児循環器学会雑誌
  
  Volume: 38 Pages: 29-37
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08300
[Journal Article] Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype2022
- Author(s)
  Yamada Kenji、Osawa Yoshimitsu、Kobayashi Hironori、Bo Ryosuke、Mushimoto Yuichi、Hasegawa Yuki、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 33 Pages: 100940-100940
- DOI
  10.1016/j.ymgmr.2022.100940
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347
[Journal Article] The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening2022
- Author(s)
  Osawa Yoshimitsu、Kobayashi Hironori、Tajima Go、Hara Keiichi、Yamada Kenji、Fukuda Seiji、Hasegawa Yuki、Aisaki Junko、Yuasa Miori、Hata Ikue、Okada Satoshi、Shigematsu Yosuke、Sasai Hideo、Fukao Toshiyuki、Takizawa Takumi、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 136 Issue: 1 Pages: 74-79
- DOI
  10.1016/j.ymgme.2022.03.009
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07753, KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-19K08347
[Journal Article] Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency2021
- Author(s)
  Shiraishi H、Yamada K、Egawa K、Ishige M、Ochi F、Watanabe A、Kawakami S、Kuzume K、Watanabe K、Sameshima K、Nakamagoe K、Tamaoka A、Asahina N、Yokoshiki S、Kobayashi K、Miyakoshi T、Oba K、Isoe T、Hayashi H、Yamaguchi S、Sato N
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 2 Pages: 214-219
- DOI
  10.1016/j.braindev.2020.07.019
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347
[Journal Article] 脂肪酸代謝異常症に対するベザフィブラートの有効性2021
- Author(s)
  山田健治
- Journal Title
  
  糖尿病・内分泌代謝科
  
  Volume: 53 Pages: 438-444
- NAID
  40022729004
- Data Source
  KAKENHI-PROJECT-19K08300
[Journal Article] Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan2021
- Author(s)
  Yamada Kenji、Yamaguchi Seiji、Yokoyama Kazunori、Aoki Kikumaro、Taketani Takeshi
- Journal Title
  
  International Journal of Neonatal Screening
  
  Volume: 7 Issue: 2 Pages: 21-21
- DOI
  10.3390/ijns7020021
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347
[Journal Article] The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency2021
- Author(s)
  Bo Ryosuke、Awano Hiroyuki、Yamada Kenji、Ooi Mayu、Okata Yuichi、Bitoh Yuko、Mizobuchi Satoshi、Iijima Kazumoto
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 27 Pages: 100760-100760
- DOI
  10.1016/j.ymgmr.2021.100760
- NAID
  120007097082
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17298, KAKENHI-PROJECT-19K08300
[Journal Article] Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening2020
- Author(s)
  Bo Ryosuke、Musha Ikuma、Yamada Kenji、Kobayashi Hironori、Hasegawa Yuki、Awano Hiroyuki、Arao Masato、Kikuchi Toru、Taketani Takeshi、Ohtake Akira、Yamaguchi Seiji、Iijima Kazumoto
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 24 Pages: 100611-100611
- DOI
  10.1016/j.ymgmr.2020.100611
- NAID
  120006882474
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347, KAKENHI-PROJECT-19K17298
[Journal Article] Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report2020
- Author(s)
  Osawa Yoshimitsu、Wada Aya、Ohtsu Yoshiaki、Yamada Kenji、Takizawa Takumi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 24 Pages: 100605-100605
- DOI
  10.1016/j.ymgmr.2020.100605
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300
[Journal Article] Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening2020
- Author(s)
  Yamada Kenji、Yokoyama Kazunori、Aoki Kikumaro、Taketani Takeshi、Yamaguchi Seiji
- Journal Title
  
  International Journal of Neonatal Screening
  
  Volume: 6 Issue: 3 Pages: 60-60
- DOI
  10.3390/ijns6030060
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347
[Journal Article] Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey2019
- Author(s)
  Shiraishi H、Yamada K、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、Oba K、Isoe T、Hayashi H、Yamaguchi S、Sato N
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 20 Pages: 100496-100496
- DOI
  10.1016/j.ymgmr.2019.100496
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19H03907, KAKENHI-PROJECT-17K10072, KAKENHI-PROJECT-16K21179
[Journal Article] 【指定難病ペディア　2019】個別の指定難病　代謝・内分泌系　グルタル酸血症2型[指定難病250]2019
- Author(s)
  山田健治
- Journal Title
  
  日本医師会雑誌
  
  Volume: 148 Pages: 282-282
- Data Source
  KAKENHI-PROJECT-16K21179
[Journal Article] A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia2019
- Author(s)
  Lee Tomoko、Takami Yuichi、Yamada Kenji、Kobayashi Hironori、Hasegawa Yuki、Sasai Hideo、Otsuka Hiroki、Takeshima Yasuhiro、Fukao Toshiyuki
- Journal Title
  
  JIMD Reports
  
  Volume: 48 Issue: 1 Pages: 19-25
- DOI
  10.1002/jmd2.12051
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-16K21179
[Journal Article] Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers2019
- Author(s)
  Yamada Kenji、Osawa Yoshimitsu、Kobayashi Hironori、Hasegawa Yuki、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 21 Pages: 100535-100535
- DOI
  10.1016/j.ymgmr.2019.100535
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] 【指定難病ペディア　2019】個別の指定難病　代謝・内分泌系　グルタル酸血症2型[指定難病250]2019
- Author(s)
  山田健治
- Journal Title
  
  日本医師会雑誌
  
  Volume: 148 Pages: 282-282
- Data Source
  KAKENHI-PROJECT-19K08300
[Journal Article] 【高血糖と低血糖-どう対応するか】低血糖の病態、診断と治療　脂肪酸代謝異常症(解説/特集)2019
- Author(s)
  山田健治
- Journal Title
  
  小児内科
  
  Volume: 51 Pages: 1026-1030
- Data Source
  KAKENHI-PROJECT-19K08300
[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
  
  JIMD Reports
  
  Volume: 49 Issue: 1 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] 【高血糖と低血糖-どう対応するか】低血糖の病態、診断と治療　脂肪酸代謝異常症(解説/特集)2019
- Author(s)
  山田健治
- Journal Title
  
  小児内科
  
  Volume: 51 Pages: 1026-1030
- Data Source
  KAKENHI-PROJECT-16K21179
[Journal Article] Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report2019
- Author(s)
  Yamada Kenji、Ito Michinori、Kobayashi Hironori、Hasegawa Yuki、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 7 Pages: 638-642
- DOI
  10.1016/j.braindev.2019.04.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency2018
- Author(s)
  Yamada Kenji、Taketani Takeshi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 2 Pages: 73-85
- DOI
  10.1038/s10038-018-0527-7
- Peer Reviewed
- Data Source
  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
  
  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
- Data Source
  KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-15K09593
[Journal Article] Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency2018
- Author(s)
  Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
- Journal Title
  
  Journal of Clinical Pathology
  
  Volume: 71 Issue: 10 Pages: 885-889
- DOI
  10.1136/jclinpath-2017-204962
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K12349, KAKENHI-PROJECT-16K21179
[Journal Article] 新生児スクリーニングで異常を認めず、横紋筋融解症を機にカルニチンパルミトイルトランスフェラーゼ2（CPT）2欠損症と診断された幼児例2018
- Author(s)
  李知子、山本和宏、起塚庸、山田健治、小林弘典、湯浅光織、重松陽介、原圭一、但馬剛、竹島泰弘．
- Journal Title
  
  日本マススクリーニング学会誌
  
  Volume: 28 Pages: 64-70
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K21179
[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
  
  Molecular Genetics and Metabolism Reports
  
  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] 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
  
  Molecular Genetics and Metabolism Reports
  
  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] 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
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 9 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] 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
  
  Molecular Genetics and Metabolism
  
  Volume: 122 Issue: 3 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 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 / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-15K09593
[Journal Article] Clinical Features of Carnitine Deficiency Secondary to Pivalate-Conjugated Antibiotic Therapy2016
- 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 / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461552, KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] CPT-2欠損症の同胞例、出生直後のアシルカルニチン分析で診断出来なかった1例2016
- Author(s)
  山田健治、坊亮輔、小林弘典、長谷川有紀、山口清次
- Journal Title
  
  特殊ミルク情報
  
  Volume: 52 Pages: 52-55
- Data Source
  KAKENHI-PROJECT-16K21179
[Journal Article] A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations2016
- 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 / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-26460901
[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 / Open Access
- Data Source
  KAKENHI-PROJECT-26870379, KAKENHI-PROJECT-15K09593
[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
- Data Source
  KAKENHI-PROJECT-25461652, KAKENHI-PROJECT-25461266, KAKENHI-PROJECT-26870379, KAKENHI-PROJECT-15K09593
[Journal Article] First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L2016
- Author(s)
  Shima A, Yasuno T, Yamada K, Yamaguchi M, Kohno R, Yamaguchi S, Kido H, Fukuda H.
- Journal Title
  
  Intern. Med.
  
  Volume: 55 Issue: 18 Pages: 2659-2661
- DOI
  10.2169/internalmedicine.55.6288
- NAID
  130005414841
- ISSN
  0918-2918, 1349-7235
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K21179
[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
  
  Molecular Genetics and Metabolism
  
  Volume: 116 Issue: 3 Pages: 192-194
- DOI
  10.1016/j.ymgme.2015.09.009
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-25461552, KAKENHI-PROJECT-26870379
[Journal Article] Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events2015
- Author(s)
  Takahashi T, Yamada K, Kobayashi H, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S
- Journal Title
  
  Pediatrics international
  
  Volume: 57 Issue: 3 Pages: 348-353
- DOI
  10.1111/ped.12660
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26870379
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24659498, KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-26870379
[Journal Article] in vitro probe assayとイムノブロッティング2014
- Author(s)
  山田健治
- Journal Title
  
  小児内科
  
  Volume: 46 Pages: 510-514
- Data Source
  KAKENHI-PROJECT-26870379
[Presentation] グルタル酸血症2型の日本人患者37名の臨床的遺伝学的特徴2023
- Author(s)
  山田健治、大澤好充、小林弘典、坊亮輔、虫本雄一、長谷川有紀、山口清次、竹谷健
- Organizer
  先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] ペマフィブラートは脂肪酸代謝異常症患者由来の皮膚線維芽細胞に対して効果がない2022
- Author(s)
  山田健治、大澤好充、松井美樹、小林弘典、長谷川有紀、野津吉友、竹谷健
- Organizer
  第63回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] 過去10年間で成人期に診断された、有機酸・脂肪酸代謝異常症の検討2022
- Author(s)
  井美樹、小林弘典、野津吉友、山田健治、長谷川有紀、大澤好充、山口清次、竹谷健
- Organizer
  第63回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] ケトン性低血糖を契機に診断されたヘテロ接合PHKA2 p.G991Aバリアントを有する2歳女児例2022
- Author(s)
  真玉千紘、小林弘典、山田健治、松井美樹、長谷川有紀、加藤文英、山口清次、竹谷健
- Organizer
  第63回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] ケトン性低血糖とカルニチン欠乏2021
- Author(s)
  松井美樹、小林弘典、山田健治、長谷川有紀、竹谷健
- Organizer
  第62回　先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] ケトンをどう解釈する2021
- Author(s)
  山田健治
- Organizer
  第17回　先天代謝異常セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] リボフラビン代謝障害によるグルタル酸血症 2 型：新生児スクリーニングで発見された FAD 合成酵素欠損症の 1 例2020
- Author(s)
  山田健治
- Organizer
  第47回　日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] 追跡可能な成人ホモシスチン尿症患者の主治医を対象にした長期予後のアンケート調査2019
- Author(s)
  山田健治、山口清次、竹谷健、横山和紀、青木菊麿
- Organizer
  第46回日本マススクリーニン学会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] 追跡可能な成人ホモシスチン尿症患者の主治医を対象にした長期予後のアンケート調査2019
- Author(s)
  山田健治、山口清次、竹谷健、横山和紀、青木菊麿
- Organizer
  第46回日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] VLCAD欠損症の診断指標の検討：ろ紙血および血清のC14:1、C14:1/C2比、C14:1/C12:1比、C14:1/C16比の比較2019
- Author(s)
  山田健治、大澤好充、小林弘典、長谷川有紀、山口清次、竹谷健
- Organizer
  第61回日本先天代謝異常学会総会
- Data Source
  KAKENHI-PROJECT-19K08300
[Presentation] VLCAD欠損症の診断指標の検討：ろ紙血および血清のC14:1、C14:1/C2比、C14:1/C12:1比、C14:1/C16比の比較2019
- Author(s)
  山田健治、大澤好充、小林弘典、長谷川有紀、山口清次、竹谷健
- Organizer
  第61回日本先天代謝異常学会総会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 新生児マススクリーニングを契機に発見されたFLAD1変異によるグルタル酸血症2型の一例2018
- Author(s)
  山田健治、伊藤道徳、小林弘典、長谷川有紀、山口清次、竹谷健
- Organizer
  第60回日本先天代謝異常学会総会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 精度管理が可能な新規血清アシルカルニチン分析法の開発と旧来法との比較検討2018
- Author(s)
  小林弘典、山田健治、長谷川有紀、梶谷晴香、山田健治、城下友義、大山直子、井手野晃、竹谷健
- Organizer
  第45回日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 新生児タンデムマススクリーニングで異常指摘されず、横紋筋融解症を機にCPT2欠損症と診断された幼児例2018
- Author(s)
  李知子、山本和宏、山田健治、小林弘典、湯浅光織、重松陽介、但馬剛、竹島泰弘
- Organizer
  第45回日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 脂肪酸代謝異常症の診断と治療（VLCAD欠損症とGA2を中心に）2018
- Author(s)
  山田健治
- Organizer
  九州先天代謝異常症診療ネットワーク会議2018
- Invited
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 出生直後のアシルカルニチン分析で診断できなかったCPT2欠損症の一例2018
- Author(s)
  山田健治,小林弘典, 長谷川有紀, 山口清次, 竹谷健
- Organizer
  第45回日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] CPT-2欠損症による突然死の予防　～拡大スクリーニング後にCPT-2欠損症と診断された1例を通して～2017
- Author(s)
  山田健治、坊亮輔、小林弘典、長谷川有紀、山口清次
- Organizer
  日本SIDS・乳幼児突然死予防学会学術集会
- Place of Presentation
  津アストホール（三重、津）
- Year and Date
  2017-03-17
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 新生児マススクリーニングで発見された日本人グルタル酸血症2型5例のまとめ2017
- Author(s)
  山田健治, 小林弘典, 長谷川有紀, 高橋明雄, 新宅治夫, 笹井英雄, 深尾敏幸, 山口清次, 竹谷健
- Organizer
  第59回日本先天代謝異常学会総会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 突然死を予防するために頻回の入院管理を行っているCPT-2欠損症の3歳女児例2017
- Author(s)
  山田健治, 坊亮輔, 小林弘典, 長谷川有紀, 山口清次, 竹谷健
- Organizer
  第69回中国四国小児科学会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] Neurological outcome of adult PKU patients detected by NBS in JAPAN2017
- Author(s)
  Yamada K, Aoki K, Yokoyama K, Kobayashi H, Hasegawa Y, Tajima G, Shintaku H, Taketani T, Yamaguchi S
- Organizer
  10th ISNS-ASIA PACIFIC REGIONAL MEETING 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 脂肪酸代謝異常症に対するベザフィブラートのオープンラベル臨床治験結果2017
- Author(s)
  山田健治, 白石秀明, 朝比奈直子, 横式沙紀, 宮腰崇, 大野浩太, 磯江敏幸, 林宏至, 山口清次, 佐藤典宏
- Organizer
  第59回日本先天代謝異常学会総会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] 成人フェニルケトン尿症患者の生活状況調査：新生児マススクリーニングの効果の検討2017
- Author(s)
  山田健治、青木菊麿、横山和紀、新宅治夫、上家和子、山口清次
- Organizer
  第44回日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] RIトレーサー法によるβ酸化能評価とin vitro probeアッセイの比較：ベザフィブラートの反応性について2016
- Author(s)
  山田健治，坊　亮輔，小林弘典，長谷川有紀，山口清次，竹谷健
- Organizer
  日本先天代謝異常学会
- Place of Presentation
  京王プラザホテル（東京、新宿）
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-16K21179
[Presentation] The effect of riboflavin is limited in Japanese patients with glutaric acidemia type II2016
- Author(s)
  Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi
- Organizer
  Society for the Study of Inborn Errors of Metabolism
- Place of Presentation
  Italia, Roma
- Year and Date
  2016-09-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K21179
[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
  東京（大手町サンケイプラザ）
- Year and Date
  2015-08-21
- Data Source
  KAKENHI-PROJECT-26870379
[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（大阪国際会議場）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-26870379
[Presentation] Serum C14:1/C12:1 ratio is a sensitive diagnostic marker for VLACD deficiency2015
- Author(s)
  Yamada K, Bo R, Kobayashi H, Hasegawa Y, Yamaguci S
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium
- Place of Presentation
  France, Lyon
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26870379
[Presentation] L-カルニチン内服によるアシルカルニチンプロファイルの変化
- Author(s)
  山田健治
- Organizer
  日本マス・スクリーニング学会
- Place of Presentation
  広島大学広仁会館
- Year and Date
  2014-08-22 – 2014-08-23
- Data Source
  KAKENHI-PROJECT-26870379
[Presentation] Why does C14:1 increase in VLCAD deficiency?
- Author(s)
  山田健治
- Organizer
  日本先天代謝異常学会
- Place of Presentation
  江陽グランドホテル（宮城県仙台市）
- Year and Date
  2014-11-13 – 2014-11-15
- Data Source
  KAKENHI-PROJECT-26870379

1. 竹谷健 (30359880)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. 大谷嘉典 (30815973)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 藤谷昌司 (40376372)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. 松崎有未 (50338183)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 赤松和土 (60338184)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. KOBAYASHI Hironori

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
7. 山口清次

# of Collaborated Projects: 0 results

# of Collaborated Products: 7 results
8. 坊亮輔

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 賀来典之

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Yamada Kenji 山田 健治

Research Projects

Research Products

Co-Researchers

Highly Purified Mesenchymal Stem Cell Therapy for Neuropathy of Congenital Metabolic Disorders Involved on Mitochondria

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In vitro evaluation of fatty acid oxidation capacity for accurate prognosis of fatty acid oxidation disordersPrincipal Investigator

Principal Investigator

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Review Section

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Development of effective evaluation method of bezafibrate for the fatty acid metabolism disorders using the iPS cellsPrincipal Investigator

Principal Investigator

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Research Field

Research Institution

Efficacy of Bezafibrate for severe form of glutaric acidemia type 2Principal Investigator

Principal Investigator

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Research Institution

[Book] 外来で見つける先天代謝異常症－シマウマ診断の勧め2023

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[Book] 小児疾患診療のための病態生理3 改訂版6版．小児内科2022 Vol.54 増刊号．2022

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[Book] 引いて調べる先天代謝異常症2014

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Total Pages

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[Journal Article] A Japanese Boy With Spotted Fever and Overlapping Symptoms of Kawasaki Disease: A Case Report2024

Author(s)

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DOI

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[Journal Article] Free Carnitine Levels During Cardiac Peri-Operative Periods with Cardiopulmonary Bypass in Pediatric Patients with Congenital Heart Diseases—Secondary Publication2023

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[Journal Article] 人工心肺を用いた小児心臓周術期における遊離カルニチン濃度の検討2022

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[Journal Article] Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype2022

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[Journal Article] The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening2022

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[Journal Article] Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency2021

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[Journal Article] 脂肪酸代謝異常症に対するベザフィブラートの有効性2021

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Yamada Kenji 山田健治

[Book] 小児疾患診療のための病態生理3　改訂版6版．小児内科2022 Vol.54 増刊号．2022

[Journal Article] 【指定難病ペディア　2019】個別の指定難病　代謝・内分泌系　グルタル酸血症2型[指定難病250]2019

[Journal Article] 【指定難病ペディア　2019】個別の指定難病　代謝・内分泌系　グルタル酸血症2型[指定難病250]2019

[Journal Article] 【高血糖と低血糖-どう対応するか】低血糖の病態、診断と治療　脂肪酸代謝異常症(解説/特集)2019

[Journal Article] 【高血糖と低血糖-どう対応するか】低血糖の病態、診断と治療　脂肪酸代謝異常症(解説/特集)2019