Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we re...

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Bibliographic Details
Main Authors: Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen
Format: Article
Language:English
Published: Elsevier 2018-09-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426918300442

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http://www.sciencedirect.com/science/article/pii/S2214426918300442

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