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Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study

Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patien...

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Dettagli Bibliografici
Pubblicato in:J Community Genet
Autori principali: Lopes, Alice, Sousa, Alexandra, Fonseca, Isabel, Branco, Margarida, Rodrigues, Carla, Coelho, Teresa, Sequeiros, Jorge, Freitas, Paula
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5752657/
https://ncbi.nlm.nih.gov/pubmed/29052096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-017-0338-0
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