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

Genotype-phenotype pitfalls in Gaucher disease.

Journal of clinical laboratory analysis - 1 Jan 1994

Strasberg P M, Triggs-Raine B L, Warren I B, Skomorowski M A, McInnes B, Becker L E, Callahan J W, Clarke J T

Abstract excerpt

Gaucher disease (GD), caused by inherited deficiency of beta-glucocerebrosidase (beta-Glc, EC 3.1.2.45), is classified type I if the CNS is not involved (non-neuronopathic), type II if CNS involvement is early and rapidly progressive (acute neuronopathic), and type III if CNS involvement occurs later and is slowly progressive (subacute neuronopathic). The clinical course is not predictable by measurement of...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child, Preschool
Share to Gaucher Disease

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

Share to Genotype

Share to Molecular Sequence Data

Share to Phenotype

Share to Point Mutation

Source

Identifiers

PMID: 7931818
DOI: 10.1002/jcla.1860080409

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

Genotype-phenotype pitfalls in Gaucher disease.PMID 7931818Read ↗

Gaucher disease: complexity in a "simple" disorder.Semantic proximity Read ↗

Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Semantic proximity Read ↗

Gaucher disease: insights from a rare Mendelian disorder.Semantic proximity Read ↗

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Semantic proximity Read ↗

Phenotype variations in Gaucher disease.Semantic proximity Read ↗

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.Semantic proximity Read ↗

Recent clinical progress in Gaucher diseaseSemantic proximity Read ↗

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Semantic proximity Read ↗

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.Semantic proximity Read ↗

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.Semantic proximity Read ↗

Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?Semantic proximity Read ↗

Gaucher disease in Syrian children: common mutations identification, and clinical futures.Semantic proximity Read ↗

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