Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.

Rosewich, H; Waterham, H R; Wanders, R J A; Ferdinandusse, S; Henneke, M; Hunneman, D; Gärtner, J

Rosewich, H; Waterham, H R; Wanders, R J A; Ferdinandusse, S; Henneke, M; Hunneman, D; Gärtner, J.

Affiliation

Rosewich H; Department of Pediatrics and Pediatric Neurology, Georg August University Goettingen, Robert-Koch-Strasse 40, 37075 Goettingen, Germany. hendrik.rosewich@med.uni-goettingen.de

Neuropediatrics ; 37(2): 95-8, 2006 Apr.

Article in En | MEDLINE | ID: mdl-16773508

Subject(s)

Acyl-CoA Oxidase/deficiency; Fatty Acids/metabolism; Peroxisomal Disorders/diagnosis; Peroxisomal Disorders/metabolism; Acyl-CoA Oxidase/genetics; Humans; Infant; Male; Peroxisomal Disorders/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Peroxisomal Disorders / Acyl-CoA Oxidase / Fatty Acids Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Infant / Male Language: En Journal: Neuropediatrics Year: 2006 Document type: Article Affiliation country: Germany Country of publication: Germany

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