Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

Bakker, H D; de Sonnaville, M L; Vreken, P; Abeling, N G; Groener, J E; Keulemans, J L; van Diggelen, O P

Bakker, H D; de Sonnaville, M L; Vreken, P; Abeling, N G; Groener, J E; Keulemans, J L; van Diggelen, O P.

Affiliation

Bakker HD; Emma Children's Hospital and Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, The Netherlands.

Eur J Hum Genet ; 9(2): 91-6, 2001 Feb.

Article in En | MEDLINE | ID: mdl-11313741

Subject(s)

Hexosaminidases/deficiency; Neuroaxonal Dystrophies/enzymology; Cells, Cultured; Child; Child, Preschool; DNA Mutational Analysis; Fibroblasts/enzymology; Fibroblasts/pathology; Genotype; Hexosaminidases/genetics; Humans; Male; Mutation; Neuroaxonal Dystrophies/genetics; Oligosaccharides/analysis; Pedigree; Phenotype; Polymerase Chain Reaction; Skin/enzymology; alpha-N-Acetylgalactosaminidase

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Collection: 01-internacional Database: MEDLINE Main subject: Neuroaxonal Dystrophies / Hexosaminidases Type of study: Risk_factors_studies Limits: Child / Child, preschool / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2001 Type: Article Affiliation country: Netherlands

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