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

Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.

European journal of neurology - 1 May 2007

Ro L-S, Chen C-M, Chang H-S, Lyu R-K, Wu Y-R, Hsu W-C, Lee-Chen G-J

Abstract excerpt

Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers. We tried to facilitate diagnosis of heterozygous Fabry patients by detailed clinical examination. We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with...

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 Corneal Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fabry Disease

Share to Genetic Carrier Screening

Share to Pain Measurement

Share to Quality of Life

Share to Renal Insufficiency

Share to Stroke

Source

Identifiers

PMID: 17437606
DOI: 10.1111/j.1468-1331.2006.01611.x

Genes

AGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.PMID 17437606Read ↗

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.Semantic proximity Read ↗

Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.Semantic proximity Read ↗

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

[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].Semantic proximity Read ↗

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.Semantic proximity Read ↗

Fabry disease: Review and experience during newborn screening.Semantic proximity Read ↗

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

A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.Semantic proximity Read ↗

Preliminary Screening Results of Fabry Disease in Kidney Transplantation Patients: A Single-Center Study.Semantic proximity Read ↗

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.Semantic proximity Read ↗

A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.Semantic proximity Read ↗

Fabry disease.Semantic proximity Read ↗

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