[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency].

Louis, J J; Maire, I; Hermier, M; Nicolas, A; Guibaud, P

[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency]. / Une observation de mucolipidose de type I par déficit primaire en alpha-D-neuraminidase.

Louis, J J; Maire, I; Hermier, M; Nicolas, A; Guibaud, P.

J Genet Hum ; 31(2): 79-91, 1983 Jun.

Article in Fr | MEDLINE | ID: mdl-6415236

Subject(s)

Mucolipidoses/pathology; Neuraminidase/deficiency; Acetylglucosaminidase/analysis; Child, Preschool; Craniofacial Dysostosis/pathology; Fibroblasts/analysis; Heterozygote; Humans; Male; Mucolipidoses/metabolism; Neuraminidase/analysis; Oligosaccharides/urine; Sialic Acids/analysis; beta-Galactosidase/analysis

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Collection: 01-internacional Database: MEDLINE Main subject: Mucolipidoses / Neuraminidase Limits: Child, preschool / Humans / Male Language: Fr Journal: J Genet Hum Year: 1983 Document type: Article

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