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

Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease.

Cornea - 1 Sept 2008

Huerva Valentín, Martín Marisa, Canto Luisa María, Yagüe Jordi

Abstract excerpt

PURPOSE: To report a new pedigree of Fabry disease that does not display corneal involvement in hemizygotes. METHODS: A 44-year-old man presented with proteinuria, chronic obstructive airway disease, hypoacusia, teleangiectasis, and hypohidrosis. A kidney biopsy, genetic study, and ophthalmological examination were conducted. The patient's 66-year-old mother and 45-year-old sister were also investigated. RESULTS:...

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 Opacity
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fabry Disease

Share to Homozygote

Share to Mutation, Missense

Share to Pedigree

Share to Recombinant Proteins

Source

Identifiers

PMID: 18724168
DOI: 10.1097/ICO.0b013e318172fbe2

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 · 11 closest

Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease.PMID 18724168Read ↗

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

Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?Semantic proximity Read ↗

Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.Semantic proximity Read ↗

Ocular signs correlate well with disease severity and genotype in Fabry disease.Semantic proximity Read ↗

Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.Semantic proximity Read ↗

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.Semantic proximity Read ↗

Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.Semantic proximity Read ↗

[Description of a new mutation in a female patient with Fabry disease].Semantic proximity Read ↗

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

[Ophthalmic manifestations in Mexican patients with Fabry disease].Semantic proximity Read ↗

Fabry's disease: otoneurologic findings in twelve members of one family.Semantic proximity Read ↗

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