Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.

A clinical description of an apparently classical case of type 1 GM1 gangliosidosis is presented. The patient was the first-born child of first cousins. She was diagnosed at 6 weeks and died at 6 months. beta-Galactosidase activity was deficient in cultured fibroblasts using [3H]GM1 ganglioside and...

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Bibliographic Details
Main Authors: Gravel, R A, Lowden, J A, Callahan, J W, Wolfe, L S, Ng Yin Kin, N M
Format: Artigo
Language:Inglês
Published: 1979
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686036/
https://ncbi.nlm.nih.gov/pubmed/117700
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