Phenotypic expression of familial amyloid polyneuropathy in Brazil.

doi:10.1111/j.1468-1331.2004.00941.x

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

Back to search

Article

Phenotypic expression of familial amyloid polyneuropathy in Brazil.

European journal of neurology - 1 Apr 2005

Bittencourt P L, Couto C A, Clemente C, Farias A Q, Palácios S A, Mies S, Goldberg A C

Abstract excerpt

Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant. Clinical heterogeneity has been reported in different populations with FAP and Va130Met variant. In order to characterize FAP expression in Brazilians and to compare its features to those reported in other cohorts, 44 Brazilian patients (27 females, median age 36 [23-53] years) with FAP and the...

Topics

Adult
Age Factors
Age of Onset
Amyloid Neuropathies, Familial
Body Mass Index
Brazil
Female
Genetic Predisposition to Disease
Humans
Male
Methionine
Middle Aged
Mutation
Neurologic Examination
Phenotype
Prealbumin
Valine

Source

Open in PubMed

Identifiers

PMID: 15804246
DOI: 10.1111/j.1468-1331.2004.00941.x

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics