The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Wolfgang Sperl* (First author), Leanne Fleuren, Peter Freisinger, Tobias B Haack, Antonia Ribes, René Feichtinger (Co-author), Richard J Rodenburg, Franz Zimmermann (Co-author), Johannes Koch (Co-author), Isabel Rivera, Holger Prokisch, Jan A Smeitink, Johannes A. Mayr (Last author)

*Corresponding author for this work

Research output: Contribution to journalOriginal Article (Journal)peer-review

33 Citations (Web of Science)
Original languageEnglish
Pages (from-to)391-403
JournalJOURNAL OF INHERITED METABOLIC DISEASE
Volume38
Issue number3
DOIs
Publication statusPublished - 2015

Keywords

  • DEHYDROGENASE COMPLEX DEFICIENCY
  • CONGENITAL LACTIC-ACIDOSIS
  • BASAL GANGLIA DISEASE
  • LIPOYL-CONTAINING COMPONENT
  • EXOME SEQUENCING REVEALS
  • SUBUNIT GENE PDHA1
  • RESPIRATORY-CHAIN
  • LEIGH-SYNDROME
  • PROTEIN BIOGENESIS
  • SLC19A3 MUTATIONS

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