Phytanoyl-coenzyme a hydroxylase deficiency - The enzyme defect in Refsum's disease [5]

New England Journal of Medicine

Volumn 337, Issue 2, 1997, Pages 133-134

  Jansen, G A ^a   Wanders, R J A ^a   Watkins, P A ^a   Mihalik, S J ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COENZYME A; OXYGENASE;

CEREBELLAR ATAXIA; CLINICAL FEATURE; ENZYME ASSAY; ENZYME DEFECT; HUMAN; LETTER; PATHOGENESIS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; REFSUM DISEASE; RETINITIS PIGMENTOSA;

HUMANS; MIXED FUNCTION OXYGENASES; PEROXISOMAL DISORDERS; PHYTANIC ACID; REFSUM DISEASE;

EID: 0030745425     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199707103370215     Document Type: Letter

References (5)