Detalhes bibliográficos
| Resumo: | 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. |
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| Autores principais: | Falcão De Campos, Catarina |
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| Outros Autores: | Conceição, isabel; Castro, Isabel; Castro, José |
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| Ano: | 2019 |
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| País: | Portugal |
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| Tipo de documento: | artigo |
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| Tipo de acesso: | acesso restrito |
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| Instituição associada: | Universidade de Lisboa |
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| Idioma: | inglês |
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| Origem: | Repositório da Universidade de Lisboa |
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