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Page 1
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Orphanet J Rare Dis. 2022 Jun 18;17(1):236. doi: 10.1186/s13023-022-02359-w.
Orphanet J Rare Dis. 2022.
PMID: 35717381
Free PMC article.
Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay.
Coelho T, Dispenzieri A, Grogan M, Conceição I, Waddington-Cruz M, Kristen AV, Wixner J, Diemberger I, Gonzalez-Moreno J, Maurer MS, Planté-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Cariou E, González-Duarte A, Glass O, Chapman D, Amass L; THAOS investigators.
Coelho T, et al.
Amyloid. 2023 Dec;30(4):445-448. doi: 10.1080/13506129.2023.2229484. Epub 2023 Jul 17.
Amyloid. 2023.
PMID: 37459334
No abstract available.
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Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.
Alvarez VC, Penttilä ST, Salutto VL, Udd B, Mazia CG.
Alvarez VC, et al. Among authors: salutto vl.
Neurol Genet. 2016 Oct 11;2(6):e109. doi: 10.1212/NXG.0000000000000109. eCollection 2016 Dec.
Neurol Genet. 2016.
PMID: 27766310
Free PMC article.
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