A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

• 主要な著者: Mingcai Ou (著者), Lin Zhu (著者), Yong Zhang (著者), Yaguo Zhang (著者), Jingyao Zhou (著者), Yu Zhang (著者), Xuelian Chen (著者), Lijuan Yang (著者), Ting Li (著者), Xingyue Su (著者), Qi Hu (著者), Wenjun Wang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-05-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein a...