Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1172-1174

  Soorani Lunsing, R J ^a   van Spronsen, F J ^a   Stolte Dijkstra, I ^a   Wanders, R J ^b   Ferdinandusse, S ^b   Waterham, H R ^b   Poll The, B T ^b   Rake, J P ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

VERY LONG CHAIN FATTY ACID;

ARTICLE; ATAXIA; CASE REPORT; DEVELOPMENTAL DISORDER; DIAGNOSTIC ERROR; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROMYOGRAPHY; FATTY ACID OXIDATION; FEMALE; FIBROBLAST CULTURE; GENETIC SCREENING; HUMAN; HYPOREFLEXIA; IMMUNOFLUORESCENCE MICROSCOPY; LIVER BIOPSY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; POLYNEUROPATHY; PRESCHOOL CHILD; PROTEIN DEFICIENCY; SIGN LANGUAGE; SKIN FIBROBLAST; STRABISMUS; WALKING DIFFICULTY;

17-HYDROXYSTEROID DEHYDROGENASES; BLOOD CHEMICAL ANALYSIS; BRAIN; CONSANGUINITY; FACIES; FATTY ACIDS; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMANS; HYDRO-LYASES; INFANT; MAGNETIC RESONANCE IMAGING; METABOLISM, INBORN ERRORS; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES;

EID: 31644441747     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0149-z     Document Type: Article

References (9)

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