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

Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists.

Blood cells, molecules & diseases - 1 Mar 2013

Thomas A S, Mehta A B, Hughes D A

Abstract excerpt

Gaucher disease (GD) is an inherited enzyme deficiency characterised by progressive cytopenias, hepatosplenomegaly and destructive bone disease. It is diagnosed by demonstration of beta glucosidase deficiency but may be suspected in presence of abnormal storage cells on tissue biopsy. Specific tr...

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
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnostic Tests, Routine

Share to Gaucher Disease

Share to Infant

Share to Infant, Newborn

Share to Young Adult

Source

Identifiers

PMID: 23219328
DOI: 10.1016/j.bcmd.2012.11.004

Genes

ACE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23219328-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists.PMID 23219328Read ↗

Recent advances in the diagnosis and management of Gaucher disease.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 ↗

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1Semantic proximity Read ↗

Gaucher disease: haematological presentations and complications.Semantic proximity Read ↗

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Semantic proximity Read ↗

Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.Semantic proximity Read ↗

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.Semantic proximity Read ↗

An Overview of Gaucher DiseaseSemantic proximity Read ↗

Neuronopathic Gaucher disease: Rare in the West, common in the East.Semantic proximity Read ↗

Screening for patients with Gaucher’s disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) studySemantic proximity Read ↗

Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.Semantic proximity Read ↗

The clinical management of Type 2 Gaucher disease.Semantic proximity Read ↗

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