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

Fabry disease.

Pharmacology & therapeutics - 1 Apr 2009

Schiffmann Raphael

Abstract excerpt

Fabry disease, an X-linked disorder of glycosphingolipids that is caused by the deficiency of alpha-galactosidase A, is associated with dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing small-fiber peripheral neuropathy, stroke, myriad cardiac manifestations and chronic renal disease. Virtually all complications of Fabry disease...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Galactosidase
Share to Diagnosis, Differential
Share to Fabry Disease

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

Share to GLA gene

Share to Glycosphingolipids

Share to Mutation

Source

Identifiers

PMID: 19318041
DOI: 10.1016/j.pharmthera.2009.01.003

Genes

GLA

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fabry disease.PMID 19318041Read ↗

Fabry disease.Semantic proximity Read ↗

Fabry disease.Semantic proximity Read ↗

Fabry diseaseSemantic proximity Read ↗

Vasculopathy in patients with Fabry disease: current controversies and research directions.Semantic proximity Read ↗

Fabry Disease and Its Different Phenotypes.Semantic proximity Read ↗

Fabry disease: Mechanism and therapeutics strategiesSemantic proximity Read ↗

Fabry disease revisited: Management and treatment recommendations for adult patientsSemantic proximity Read ↗

[Fabry disease: Pathogenesis, pathophysiology, and therapy].Semantic proximity Read ↗

Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.Semantic proximity Read ↗

[Fabry-Anderson disease: current state of knowledge].Semantic proximity Read ↗

[Molecular pathology and clinical manifestations of Fabry disease].Semantic proximity Read ↗

[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives].Semantic proximity Read ↗

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