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

Pubmed ID: 
25511235
Year: 
2014
Month: 
DEC
Citation: 
Pitt JJ, Peters H, Boneh A, Yaplito-Lee J, Wieser S, Hinderhofer K, Johnson D, Zschocke J. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. JOURNAL OF INHERITED METABOLIC DISEASE (2014) PubMed