Article

Bone manifestations in patients with Gaucher disease type 1 in southwestern Colombia

2024-06-07

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction:</bold> Gaucher disease (GD1) is caused by the enzymatic deficiency of β-glucocerebrosidase. This leads to accumulation of sphingolipids in organs, such as the liver, spleen, and bone marrow. Bone involvement is frequent in GD1, causing pain, necrosis and even fractures or growth deficits in children, leading to painful surgeries and progressive decrease in quality of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a56e2645-2153-5927-ba6b-a96c970e6edf
DOI: 10.21203/rs.3.rs-4224968/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Bone manifestations in patients with Gaucher disease type 1 in southwestern ColombiaDOI 10.21203/rs.3.rs-4224968/v1Read

Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.Semantic proximity Read

Diagnosis, treatment and genetic analysis of an elderly patient with Gaucher's disease characterized by marked multiple bone destruction.Semantic proximity Read

[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment].Semantic proximity Read

An Overview of Gaucher DiseaseSemantic proximity Read

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

In-Depth Phenotyping for Clinical Stratification of Gaucher DiseaseSemantic 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: haematological presentations and complications.Semantic proximity Read

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

The Spectrum of Neurological Manifestations Associated with Gaucher DiseaseSemantic proximity Read

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

Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.Semantic proximity Read