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

Low frequency of Fabry disease in patients with common heart disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2018

Schiffmann Raphael, Swift Caren, McNeill Nathan, Benjamin Elfrida R, Castelli Jeffrey P, Barth Jay, Sweetman Lawrence, Wang Xuan, Wu Xiaoyang

Abstract excerpt

PURPOSE: To test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease. METHODS: Globotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing. RESULTS: We tested 2,256 consecutive...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to alpha-Galactosidase

Share to Comorbidity

Share to Fabry Disease

Share to Heart Diseases

Share to Trihexosylceramides

Source

Open in PubMed Open full text

Identifiers

PMID: 29227985
DOI: 10.1038/gim.2017.175
PMCID: PMC9302444

Genes

GLA

Variants

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

Low frequency of Fabry disease in patients with common heart disease.PMID 29227985Read ↗

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.Semantic proximity Read ↗

Population Frequency of Undiagnosed Fabry Disease in the General PopulationSemantic proximity Read ↗

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.Semantic proximity Read ↗

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

Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac, and stroke clinicsSemantic proximity Read ↗

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.Semantic proximity Read ↗

Fabry Disease and Its Different Phenotypes.Semantic proximity Read ↗

Is it Fabry disease?Semantic proximity Read ↗

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

Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.Semantic proximity Read ↗

Diagnosis and Management of Fabry Disease in High-Risk Renal Disease Patients in Taiwan: A Single Center Study.Semantic proximity Read ↗

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