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

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

PloS one - 1 Jan 2016

de Greef Bianca T A, Hoeijmakers Janneke G J, Wolters Emma E, Smeets Hubertus J M, van den Wijngaard Arthur, Merkies Ingemar S J, Faber Catharina G, Gerrits Monique M

Abstract excerpt

OBJECTIVE: Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigated. Our aim is to determine the presence of Fabry disease in patients with small fiber neuropathy. METHODS: Patients...

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 Fabry Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycolipids

Share to Nerve Fibers, Myelinated

Share to Nervous System Diseases

Share to Neuralgia

Share to Sensation Disorders

Share to Sphingolipids

Source

Open in PubMed Open full text

Identifiers

PMID: 26866599
DOI: 10.1371/journal.pone.0148316
PMCID: PMC4750945

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.PMID 26866599Read ↗

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.Semantic proximity Read ↗

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Semantic proximity Read ↗

Associated conditions in small fiber neuropathy - a large cohort study and review of the literature.Semantic proximity Read ↗

[Neurological manifestations of Fabry disease].Semantic proximity Read ↗

Fabry diseaseSemantic proximity Read ↗

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.Semantic proximity Read ↗

Low frequency of Fabry disease in patients with common heart disease.Semantic proximity Read ↗

Later-Onset Fabry DiseaseSemantic proximity Read ↗

Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y.Semantic proximity Read ↗

Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.Semantic proximity Read ↗

Fabry disease with atypical neurological presentation: report of a case.Semantic proximity Read ↗

Functional and structural nerve fiber findings in heterozygote patients with Fabry diseaseSemantic proximity Read ↗

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