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Article

Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.

Developmental neuroscience - 1 Jan 1991

Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, Fukuhara Y

Abstract excerpt

Results of a molecular analysis of GM1-gangliosidosis and galactosialidosis in our laboratory are briefly reviewed. A common single base substitution was found in adult/chronic form of GM1-gangliosidosis among heterogeneous beta-galactosidase gene mutations, and restriction site analysis was successfully performed for diagnosis of homozygotes and heterozygotes. All adult galactosialidosis patients had a common...

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PMID: 1817034
DOI: 10.1159/000112201

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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