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

James J Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito-Lee, Stefanie Wieser (Co-author), Katrin Hinderhofer, David Johnson, Johannes Zschocke

    Research output: Contribution to journalOriginal Articlepeer-review

    28 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)459-466
    JournalJOURNAL OF INHERITED METABOLIC DISEASE
    Volume38
    Issue number3
    DOIs
    Publication statusPublished - 2015

    Keywords

    • 4-HYDROXY-6-METHYL-2-PYRONE
    • DIAGNOSIS

    Cite this