Early diagnostic tools in hereditary amyloidosis related to transthyretin hATTR V30M autonomic neuropathy

Falcão De Campos, Catarina; Conceição, isabel; Castro, Isabel; Castro, José

http://hdl.handle.net/10451/50207

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Autores

Falcão De Campos, Catarina

Conceição, isabel

Castro, Isabel

Castro, José

Resumo(s)

Hereditary amyloidosis related to transthyretin (hATTR) is a fatal progressive, autosomal dominant disease caused by mutations in the TTR gene. The most common TTR mutation worldwide is the V30M with a neuropathic phenotype, originating early impairment of small fibres responsible for the autonomic and sensory abnormalities frequently found as the first manifestation of disease. Diagnostic tools to assess autonomic function are essential in the diagnosis of small fibre neuropathy (SFNP) in early stages of disease, allowing an early treatment management.

Descrição

URI

http://hdl.handle.net/10451/50207

Citação

Amyloid. 2019;26(sup1):35-36

Editora

Taylor & Francis

DOI

10.1080/13506129.2019.1582503

Coleções

IMM - Artigos em Revistas Internacionais
FM - Artigos em Revistas Internacionais

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