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

Is it Fabry disease?

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

Schiffmann Raphael, Fuller Maria, Clarke Lorne A, Aerts Johannes M F G

Abstract excerpt

Fabry disease is caused by mutations in the GLA gene that lower α-galactosidase A activity to less than 25-30% of the mean normal level. Several GLA variants have been identified that are associated with relatively elevated residual α-galactosidase A. The challenge is to determine which GLA variants can cause clinical manifestations related to Fabry disease. Here, we review the various types of GLA variants and...

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 Fabry Disease
Share to GLA gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Trihexosylceramides

Source

Identifiers

PMID: 27195818
DOI: 10.1038/gim.2016.55

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Is it Fabry disease?PMID 27195818Read ↗

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.Semantic proximity Read ↗

Fabry Disease and Its Different Phenotypes.Semantic proximity Read ↗

Prevalence of Fabry disease-causing variants in the UK Biobank.Semantic proximity Read ↗

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Semantic proximity Read ↗

Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry DiseaseSemantic proximity Read ↗

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.Semantic proximity Read ↗

The Challenge of Diagnosis and Indication for Treatment in Fabry DiseaseSemantic proximity Read ↗

Fabry disease.Semantic proximity Read ↗

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical ManifestationsSemantic proximity Read ↗

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene.Semantic proximity Read ↗

No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.Semantic proximity Read ↗

[Genetics of Fabry disease: diagnostic and therapeutic implications].Semantic proximity Read ↗

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