Phenotype of adult Refsum disease due to a defect in peroxin 7

Neurology

Volumn 68, Issue 9, 2007, Pages 698-700

  Horn, M A ^a   Van Den Brink, D M ^b   Wanders, R J A ^b   Duran, M ^b   Poll The, B T ^b   Tallaksen, C M E ^a   Stokke, O H ^c   Moser, H ^d   Skjeldal, O H ^c  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF OSLO   (Norway)

^d JOHNS HOPKINS CHILDREN S CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PEROXIN; PEROXIN 7; PEROXISOMAL ENZYME PHYTANOYL COENZYME A HYDROXYLASE; PHYTANIC ACID; UNCLASSIFIED DRUG; CELL RECEPTOR; PEROXISOMAL TARGETING SIGNAL 2 RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIET THERAPY; GENE MUTATION; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; RETINOPATHY; AGED; CLASSIFICATION; GENETIC PREDISPOSITION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

AGED; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PHENOTYPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REFSUM DISEASE;

EID: 33947510993     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000255960.01644.39     Document Type: Article

References (10)

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