Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

Published 2014 View Full Article

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Title
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
Authors
Keywords
Fatty Acid Oxidation, Adipic Acid, Metabolic Decompensation, Fatty Acid Metabolite, Organic Acid Profile
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 38, Issue 3, Pages 459-466
Publisher
Springer Nature
Online
2014-12-15
DOI
10.1007/s10545-014-9801-9
References
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