Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
作者： Sarah C. Grünert , A. Wehrle , P. Villavicencio-Lorini , E. Lausch , B. Vetter
DOI: 10.1186/S12881-015-0199-5
关键词:
摘要: Background Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid β-oxidation and a target disease newborn screening in many countries.
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