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Article

Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.

Journal of inherited metabolic disease - 1 Jan 1991

Ribeiro M G, Pinto R A, Dos Santos M R, Maia M, Sá Miranda M C

Abstract excerpt

GM2-gangliosidosis B1 variant is thought to be a rare disorder with a wide geographical and ethnic distribution. We report the biochemical findings obtained in different specimens from a group of 11 B1 variant patients originating from the north of Portugal. The biochemical data obtained seem to...

Topics

Acetylglucosamine
Child
Child, Preschool
Electrophoresis, Cellulose Acetate
Fibroblasts
G(M2) Ganglioside
Gangliosidoses
Genetic Variation
Heterozygote
Homozygote
Humans
Hymecromone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leukocytes

Lymphocytes

Portugal

beta-N-Acetylhexosaminidases

Source

Identifiers

PMID: 1838125
DOI: 10.1007/BF01799940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1838125-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.PMID 1838125Read ↗

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