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

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 444-446

  Jansen, G A ^a   Mihalik, S J ^b   Watkins, P A ^b   Moser, H W ^b   Jakobs, C ^c   Heijmans, H S A ^a   Wanders, R J A ^a,d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

OXYGENASE; PHYTANIC ACID; PHYTANOYL COENZYME A HYDROXYLASE; PRISTANIC ACID; UNCLASSIFIED DRUG;

CHONDRODYSPLASIA PUNCTATA; CONFERENCE PAPER; CONTROLLED STUDY; DECARBOXYLATION; DEGRADATION; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HUMAN; HUMAN TISSUE; OXIDATION; REFSUM DISEASE;

CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; LIVER; MIXED FUNCTION OXYGENASES; PEROXISOMAL DISORDERS;

EID: 0030814235     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005379406639     Document Type: Conference Paper

References (10)

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