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Phytanoyl‐CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
Author(s) -
Jansen G. A.,
Mihalik S. J.,
Watkins P. A.,
Moser H. W.,
Jakobs C.,
Heijmans H. S. A.,
Wanders R. J. A.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005379406639
Subject(s) - medicine , biochemistry , gerontology , pediatrics , library science , family medicine , computer science
G. A. JANSEN1, S. J. MIHALIK3, P. A. WATKINS4, H. W. MOSER3,4, C. JAKOBS5, H. S. A. HEIJMANS2 and R. J. A. WANDERS1,2* Academic Medical Centre, University of Amsterdam, Departments of 1Clinical Biochemistry and 2Pediatrics, Amsterdam, The Netherlands; Johns Hopkins University School of Medicine, Kennedy Krieger Research Institute, Departments of 3Pediatrics and 4Neurology, Baltimore, Maryland, USA; 5Department of Clinical Chemistry, Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands