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Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.

AuthorsR J Wanders, C Dekker, V A Hovarth, R B Schutgens, J M Tager, P Van Laer, D Lecoutere
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 17 Issue 3 Pg. 315-8 ( 1994) ISSN: 0141-8955 [Print] United States
PMID7807941 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Phytanic Acid
  • Transferases
  • Alkyl and Aryl Transferases
  • alkylglycerone-phosphate synthase
Topics
  • Alkyl and Aryl Transferases
  • Chondrodysplasia Punctata (enzymology, genetics)
  • Fibroblasts (enzymology)
  • Humans
  • Immunoblotting
  • Infant, Newborn
  • Male
  • Microbodies (enzymology)
  • Phytanic Acid (metabolism)
  • Transferases (deficiency)

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