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

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Mar 2005

Schaefer E, Mehta A, Gal A

Abstract excerpt

AIM: Mutations of the gene (GLA) encoding alpha-galactosidase A are implicated in Fabry disease, a progressive, X-chromosomal inherited lysosomal storage disorder. FOS--the Fabry Outcome Survey - was established as a long-term surveillance study to describe the natural course of Fabry disease and its response to enzyme replacement therapy in a large cohort of European patients. Clinical phenotype, age of onset...

Read the complete abstract on PubMed

Topics

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

Share to Age Distribution
Share to alpha-Galactosidase
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fabry Disease

Share to Incidence

Share to Mutation, Missense

Share to Point Mutation

Share to Surveys and Questionnaires

Source

Identifiers

PMID: 15895718
DOI: 10.1111/j.1651-2227.2005.tb02119.x

Genes

FOS
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

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.PMID 15895718Read ↗

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.Semantic proximity Read ↗

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

[Comparison of patients from a Spanish Registry of Fabry disease in two periods].Semantic proximity Read ↗

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.Semantic proximity Read ↗

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.Semantic proximity Read ↗

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.Semantic proximity Read ↗

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

Fabry disease - current data and therapeutic approaches.Semantic proximity Read ↗

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.Semantic proximity Read ↗

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.Semantic proximity Read ↗

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

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

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