Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden

Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden

Abstract Background Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untr...

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Main Authors: Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal, Eugenia Cisneros-Barroso
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary transthyretin amyloidosis
Burden of disease
Rare disease
Well-being
Caregivers
Online Access:https://doi.org/10.1186/s13023-021-01910-5

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