Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
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Title
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
Authors
Keywords
<em class=EmphasisTypeItalic >ETFDH</em>, Lipid storage myopathy, Multiple acyl-CoA dehydrogenase deficiency, Whole exome sequencing
Journal
BMC Medical Genomics
Volume 11, Issue 1, Pages -
Publisher
Springer Nature
Online
2018-04-04
DOI
10.1186/s12920-018-0356-8
References
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Related references
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- ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
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- Lipid storage myopathies
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- Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2
- (2008) Yuka Yotsumoto et al. MOLECULAR GENETICS AND METABOLISM
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