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

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

Back to search

Article

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

American journal of human genetics - 1 Sept 1991

Nishimoto J, Nanba E, Inui K, Okada S, Suzuki K

Abstract excerpt

GM1-gangliosidosis is a genetic neurological disorder caused by mutations in the lysosomal acid beta-galactosidase gene. While its phenotypic expression is complex, it is usually classified as being of infantile, juvenile, or adult form, on the basis of age at onset, the rate of symptomatic progr...

Topics

Adult
Base Sequence
Blotting, Northern
Cell Line
Child, Preschool
Cloning, Molecular
Female
G(M1) Ganglioside
Gangliosidoses
Humans
Infant
Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Transfection

beta-Galactosidase

Source

Open in PubMed Open full text

Identifiers

PMID: 1909089
PMCID: PMC1683129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1909089-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.PMID 1909089Read ↗

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

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.Semantic proximity Read ↗

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

Six novel ?-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisSemantic proximity Read ↗

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

Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severitySemantic proximity Read ↗

GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.Semantic proximity Read ↗

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

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

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

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

Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.Semantic proximity Read ↗

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