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1 Ergebnisse
1
Clinical and molecular investigation of 37 Japanese patient..:
Kenji Yamada
;
Yoshimitsu Osawa
;
Hironori Kobayashi
...
http://www.sciencedirect.com/science/article/pii/S2214426922001008. , 2022
Link:
https://doi.org/10.1016/j.ymgmr.2022.100940
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:2d52c3790d7b4c34b33e09e155d77d77&Exemplar=1&LAN=DE A1 Kenji Yamada A1 Yoshimitsu Osawa A1 Hironori Kobayashi A1 Ryosuke Bo A1 Yuichi Mushimoto A1 Yuki Hasegawa A1 Seiji Yamaguchi A1 Takeshi Taketani PB Elsevier YR 2022 K1 Glutaric acidemia type II (GA2) K1 Adult onset K1 Myopathy K1 Common variant K1 Riboflavin K1 Bezafibrate K1 Medicine (General) K1 R5-920 K1 Biology (General) K1 QH301-705.5 JF http://www.sciencedirect.com/science/article/pii/S2214426922001008 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2022.100940 DO https://doi.org/10.1016/j.ymgmr.2022.100940 SF ELIB - SuUB Bremen
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