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A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Authors
  • Chen, Min1
  • Peng, Jing1
  • Wei, Wei1
  • Wang, Rui1
  • Xu, Hongliang1
  • Liu, Hongbo1
  • 1 a Department of Neurology , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , P.R. China. , (China)
Type
Published Article
Journal
The International journal of neuroscience
Publication Date
Mar 01, 2018
Volume
128
Issue
3
Pages
291–294
Identifiers
DOI: 10.1080/00207454.2017.1380641
PMID: 28914566
Source
Medline
Keywords
License
Unknown

Abstract

This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.

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