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Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
Author(s): Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Heijmans HSA, Wanders RJA
Source: JOURNAL OF INHERITED METABOLIC DISEASE    Volume: 20    Issue: 3    Pages: 444-446    Published: JUL 1997  
Times Cited: 26     References: 10     
Document Type: Proceedings Paper
Language: English
Addresses:
1. UNIV AMSTERDAM, ACAD MED CTR, DEPT CLIN BIOCHEM, NL-1105 AZ AMSTERDAM, NETHERLANDS
2. UNIV AMSTERDAM, ACAD MED CTR, DEPT PEDIAT, NL-1105 AZ AMSTERDAM, NETHERLANDS
3. JOHNS HOPKINS UNIV, SCH MED, KENNEDY KRIEGER RES INST, DEPT PEDIAT, BALTIMORE, MD 21218 USA
4. JOHNS HOPKINS UNIV, SCH MED, KENNEDY KRIEGER RES INST, DEPT NEUROL, BALTIMORE, MD 21218 USA
5. FREE UNIV AMSTERDAM HOSP, DEPT CLIN CHEM, METAB UNIT, AMSTERDAM, NETHERLANDS
Publisher: KLUWER ACADEMIC PUBL, SPUIBOULEVARD 50, PO BOX 17, 3300 AA DORDRECHT, NETHERLANDS
Subject Category: Endocrinology & Metabolism; Genetics & Heredity
IDS Number: XN945
ISSN: 0141-8955
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