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

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Journal of inherited metabolic disease - 1 Feb 2007

Vedder A C, Linthorst G E, van Breemen M J, Groener J E M, Bemelman F J, Strijland A, Mannens M M A M, Aerts J M F G, Hollak C E M

Abstract excerpt

BACKGROUND: Fabry disease (OMIM 301500) is an X-linked lysosomal storage disorder with characteristic vascular, renal, cardiac and cerebral complications. Globotriaosylceramide (Gb(3)) accumulates in Fabry patients as a result of alpha-galactosidase A deficiency. The phenotypic variability is high, but the relationship between clinical symptoms in individual Fabry patients has not been uniformly documented. Also,...

Read the complete abstract on PubMed

Topics

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

Share to Fabry Disease
Share to Glomerular Filtration Rate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertrophy, Left Ventricular

Share to Netherlands

Share to Quality of Life

Share to Sex Factors

Share to Surveys and Questionnaires

Share to Trihexosylceramides

Source

Identifiers

PMID: 17206462
DOI: 10.1007/s10545-006-0484-8

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

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.PMID 17206462Read ↗

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.Semantic proximity Read ↗

Biomarkers in Anderson–Fabry DiseaseSemantic proximity Read ↗

Fabry Disease and Its Different Phenotypes.Semantic proximity Read ↗

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.Semantic proximity Read ↗

Fabry disease - current data and therapeutic approaches.Semantic 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 ↗

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

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

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

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.Semantic proximity Read ↗

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.Semantic proximity Read ↗

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

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