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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Use this link to cite this item : https://ir.lib.shimane-u.ac.jp/55323

language	eng
Author	YAMADA, Kenji Osawa, Yoshimitsu Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. / Department of Pediatrics, Gunma University Faculty of Medicine, Maebashi, Gunma, Japan. Kobayashi, Hironori 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. HASEGAWA, Yuki Yamaguchi, Seiji Taketani, Takeshi
Journal Title	Molecular Genetics and Metabolism Reports
Volume	33
ISSN（Online）	2214-4269
Published Date	2022-11-14
DOI	10.1016/j.ymgmr.2022.100940
PubMed ID	36406819
Publisher	Elsevier Inc.
NII Type	Journal Article
Gyoseki ID	e43531
OAI-PMH Set	Faculty of Medicine