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Article

Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.

Pediatric neurology - 1 Jun 1994

Ishii N, Oshima A, Sakuraba H, Fukuyama Y, Suzuki Y

Abstract excerpt

GM1 gangliosidosis is a genetic disease with lysosomal beta-galactosidase deficiency caused by mutations of the gene coding for this enzyme. However, apparently normal enzyme activity was found in plasma or serum from juvenile GM1 gangliosidosis patients homozygous for a mutation, R201C (201Arg-->Cys), after clotting for 30 min. This extracellular fluid finding is unusual in patients with primary and genetic...

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PMID: 8068159
DOI: 10.1016/0887-8994(94)90129-5

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

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