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Article

[Late infantile and juvenile form of GM2-gangliosidosis variant B1].

Revista de neurologia - 1 Jan 2000

Eirís J, Chabás A, Coll M J, Castro-Gago M

Abstract excerpt

INTRODUCTION: Variant B1 is a rare form of GM2-gangliosidosis characterized by the presence of a mutation in the hexosaminidase A gene (HEXA) leading to a defect in the catalytic region of the alpha-subunit of beta-hexosaminidase A (alpha beta heterodymer). The mutated Hex A has almost normal activity against the natural synthetic substrates (4-methylumbelliferyl-N-acetyl-beta-D-glucosamine, 4MU-NAG) but is...

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Identifiers

PMID: 10584247

Genes

HEXA
NAGS

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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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