Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.

Authors	G A Jansen, S J Mihalik, P A Watkins, H W Moser, C Jakobs, H S Heijmans, R J Wanders
Journal	Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 20 Issue 3 Pg. 444-6 (Jul 1997) ISSN: 0141-8955 [Print] United States
PMID	9266377 (Publication Type: Clinical Trial, Journal Article)
Chemical References	Mixed Function Oxygenases PHYH protein, human
Topics	Chondrodysplasia Punctata, Rhizomelic (enzymology) Fluorescent Antibody Technique, Indirect Humans Liver (enzymology) Mixed Function Oxygenases (deficiency) Peroxisomal Disorders (enzymology)

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