Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 indicate that only one of these patients is a genetic compound presenting a clinical and biochemical pattern similar to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Genetic Variation

Share to Heterozygote

Share to Homozygote

Share to Leukocytes

Share to Lymphocytes

Source

Identifiers

PMID: 1838125
DOI: 10.1007/BF01799940

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Identification of GM2-gangliosidosis B1 variant carriers.Semantic proximity Read ↗

[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].Semantic proximity Read ↗

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.Semantic proximity Read ↗

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.Semantic proximity Read ↗

Biochemical characterization of the GM2 gangliosidosis B1 variant.Semantic proximity Read ↗

[Late infantile and juvenile form of GM2-gangliosidosis variant B1].Semantic proximity Read ↗

A case of the B1 variant of GM2-gangliosidosis.Semantic proximity Read ↗

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.Semantic proximity Read ↗

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.Semantic proximity Read ↗

Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.Semantic proximity Read ↗

Prenatal diagnosis of GM2-gangliosidosis B1 variant.Semantic proximity Read ↗

[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.