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

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.

American journal of hematology - 1 Jul 2015

Grabowski Gregory A, Zimran Ari, Ida Hiroyuki

Abstract excerpt

Study of the natural history of Gaucher disease has revealed marked phenotypic variation. Correlations to genotypes could provide insight into individual susceptibility to varying disease severity, which may impact whole-life medical care, reproductive decisions, and therapeutic choices for affected families. Importantly, pre-symptomatic or prospective interventions or the use of therapies with significant risk...

Read the complete abstract on PubMed

Topics

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

Share to Carbohydrate Chemistry and Synthesis
Share to Cellular transport and secretion

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

Share to Gaucher Disease

Share to Lysosomal Storage Disorders Research

Share to Phenotype

Share to Registries

Source

Identifiers

PMID: 26096741
DOI: 10.1002/ajh.24063

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

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.PMID 26096741Read ↗

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.Semantic proximity Read ↗

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.Semantic proximity Read ↗

Genotype/phenotype correlations in Gaucher's disease.Semantic proximity Read ↗

Gaucher disease phenotypes outflanked?Semantic proximity Read ↗

Recent clinical progress in Gaucher diseaseSemantic proximity Read ↗

In-Depth Phenotyping for Clinical Stratification of Gaucher DiseaseSemantic proximity Read ↗

Understanding the natural history of G aucher diseaseSemantic proximity Read ↗

3 Gaucher's disease: clinical features and natural historySemantic proximity Read ↗

Gaucher disease phenotype.Semantic proximity Read ↗

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of PediatricsSemantic proximity Read ↗

Phenotype variations in Gaucher disease.Semantic proximity Read ↗

Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.Semantic proximity Read ↗

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