Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in <i>ETFDH</i>, a common Japanese variant, causes a mortal phenotype.

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第一作者： Kenji,Yamada

第一单位： Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.;Department of Pediatrics, Oda Municipal Hospital, Oda, Shimane, Japan.

作者： Kenji,Yamada ^[1] ; Yoshimitsu,Osawa ^[2] ; Hironori,Kobayashi ^[3] ; Ryosuke,Bo ^[4] ; Yuichi,Mushimoto ^[5] ; Yuki,Hasegawa ^[3] ; Seiji,Yamaguchi ^[3] ; Takeshi,Taketani ^[3]

作者单位： Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.;Department of Pediatrics, Oda Municipal Hospital, Oda, Shimane, Japan. ^[1] Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.;Department of Pediatrics, Gunma University Faculty of Medicine, Maebashi, Gunma, Japan. ^[2] Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. ^[3] Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.;Department of Pediatrics, Kobe University School of Medicine, Kobe, Hyogo, Japan. ^[4] Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.;Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. ^[5]

关键词 Adult onset Bezafibrate CoQ, coenzyme Q10 Common variant ETF, electron transfer flavoprotein ETFA, electron transfer flavoprotein alpha ETFB, electron transfer flavoprotein beta ETFDH, electron transfer flavoprotein dehydrogenase FAD, flavin adenine dinucleotide Glutaric acidemia type II (GA2)MADD, multiple acyl-CoA dehydrogenase deficiency Myopathy NBS, newborn screening Riboflavin

DOI 10.1016/j.ymgmr.2022.100940

PMID 36406819

发布时间 2022-11-22

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Molecular genetics and metabolism reports

2022年33卷

100940页

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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in <i>ETFDH</i>, a common Japanese variant, causes a mortal phenotype.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in <i>ETFDH</i>, a common Japanese variant, causes a mortal phenotype.

Molecular genetics and metabolism reports

相似文献

Molecular genetics and metabolism reports

相关期刊

检索历史清除