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Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.
Orphanet J Rare Dis. 2021 Jun 10;16(1):266. doi: 10.1186/s13023-021-01910-5.
Orphanet J Rare Dis. 2021.
PMID: 34112225
Free PMC article.
Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster.
Cisneros-Barroso E, González-Moreno J, Rodríguez A, Ripoll-Vera T, Álvarez J, Usón M, Figuerola A, Descals C, Montalá C, Ferrer-Nadal MA, Losada I.
Cisneros-Barroso E, et al. Among authors: montala c.
Amyloid. 2020 Dec;27(4):254-258. doi: 10.1080/13506129.2020.1789580. Epub 2020 Jul 7.
Amyloid. 2020.
PMID: 32633140
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Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group.
Adams D, et al.
Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16.
Lancet Neurol. 2021.
PMID: 33212063
Clinical Trial.
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