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| Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata |
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| 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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| |  |  |  |  | | | | Record from Web of Science® | |  |  | | | | | | |