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 phenotype

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言語	英語
著者	山田健治 Osawa, Yoshimitsu Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. / Department of Pediatrics, Gunma University Faculty of Medicine, Maebashi, Gunma, Japan. 小林弘典 Bo, Ryosuke Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.　/　Department of Pediatrics, Kobe University School of Medicine, Kobe, Hyogo, Japan. Mushimoto, Yuichi Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.　/　Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. 長谷川有紀山口清次竹谷健
掲載誌名	Molecular Genetics and Metabolism Reports
巻	33
ISSN（Online）	2214-4269
発行日	2022-11-14
DOI	10.1016/j.ymgmr.2022.100940
PubMed ID	36406819
出版者	Elsevier Inc.
資料タイプ	学術雑誌論文
業績ID	e43531
部局	医学部