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

Six novel ?-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

1 Jan 1999

Abstract excerpt

GM1-gangliosidosis is a lysosomal storage disease caused by a deficiency of acid beta-galactosidase. Three clinical forms are recognized-infantile, juvenile, and adult-based on age of onset and severity of the symptoms. We have performed molecular analysis of a large cohort of GM1 patients (19 Brazilian and one Uruguayan), using nonradioactive single-strand conformation polymorphism (SSCP) and restriction enzyme...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Lysosomal Storage Disorders Research
Share to Trypanosoma species research and implications

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

Source

Identifiers

PMID: 10338095
DOI: 10.1002/(sici)1098-1004(1999)13:5<401::aid-humu9>3.0.co;2-n

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

Six novel ?-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisPMID 10338095Read ↗

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.Semantic proximity Read ↗

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.Semantic proximity Read ↗

A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosisSemantic proximity Read ↗

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.Semantic proximity Read ↗

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.Semantic proximity Read ↗

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.Semantic proximity Read ↗

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.Semantic proximity Read ↗

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.Semantic proximity Read ↗

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.Semantic proximity Read ↗

GM1 gangliosidosis: patients with different phenotypic features and novel mutations.Semantic proximity Read ↗

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.Semantic proximity Read ↗

[Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].Semantic proximity Read ↗

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