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

Transthyretin familial amyloid polyneuropathy.

Handbook of clinical neurology - 1 Jan 2013

Planté-Bordeneuve V, Kerschen P

Abstract excerpt

TTR FAP is characterized by phenotypic and genotypic heterogeneity. The severity of polyneuropathy along with autonomic dysfunction and heart involvement makes it a life-threatening disease. This protein is mainly produced by the liver. Molecular genetic testing is essential in the diagnostic strategy. TTR-Val30Met is the most frequent substitution, resulting in a guanine to cytosine mutation in exon 2 of the...

Read the complete abstract on PubMed

Topics

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

Share to TTR gene
Share to Mutation
Share to Peripheral Nervous System Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Prealbumin

Share to Amyloid

Share to Amyloid Neuropathies, Familial

Share to FAP gene

Source

Identifiers

PMID: 23931808
DOI: 10.1016/B978-0-444-52902-2.00038-2

Genes

TTR
FAP

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transthyretin familial amyloid polyneuropathy.PMID 23931808Read ↗

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.Semantic proximity Read ↗

Transthyretin familial amyloid polyneuropathy: an update.Semantic proximity Read ↗

[The diagnosis and management of familial amyloid polyneuropathy].Semantic proximity Read ↗

[Familial amyloidotic polyneuropathies].Semantic proximity Read ↗

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.Semantic proximity Read ↗

Familial amyloidotic polyneuropathy and transthyretin.Semantic proximity Read ↗

Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathySemantic proximity Read ↗

Updates on hereditary transthyretin amyloidosis polyneuropathy.Semantic proximity Read ↗

[Amyloid polyneuropathies--biochemical and genetic aspects].Semantic proximity Read ↗

[Transthyretin-related hereditary amyloidosis].Semantic proximity Read ↗

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area.Semantic proximity Read ↗

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.Semantic proximity Read ↗

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