Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Mancini, G M; Hu, P; Verheijen, F W; van Diggelen, O P; Janse, H C; Kleijer, W J; Beemer, F A; Jennekens, F G

Mancini, G M; Hu, P; Verheijen, F W; van Diggelen, O P; Janse, H C; Kleijer, W J; Beemer, F A; Jennekens, F G.

Affiliation

Mancini GM; Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands.

Eur J Pediatr ; 151(8): 590-5, 1992 Aug.

Article in En | MEDLINE | ID: mdl-1505579

Subject(s)

Genetic Carrier Screening; Lysosomal Storage Diseases/diagnosis; Neutrophils/metabolism; Sialic Acids/metabolism; Ataxia/complications; Child, Preschool; Chorionic Villi/metabolism; Fibroblasts/metabolism; Humans; Intellectual Disability/complications; Lysosomal Storage Diseases/genetics; Lysosomal Storage Diseases/metabolism; Male; N-Acetylneuraminic Acid; Prenatal Diagnosis; Skin/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Sialic Acids / Lysosomal Storage Diseases / Genetic Carrier Screening / Neutrophils Type of study: Diagnostic_studies / Prognostic_studies Aspects: Patient_preference Limits: Child, preschool / Humans / Male Language: En Journal: Eur J Pediatr Year: 1992 Document type: Article Affiliation country: Netherlands Country of publication: Germany

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