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Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Dispenzieri A, Coelho T, Conceição I, Waddington-Cruz M, Wixner J, Kristen AV, Rapezzi C, Planté-Bordeneuve V, Gonzalez-Moreno J, Maurer MS, Grogan M, Chapman D, Amass L; THAOS investigators. Dispenzieri A, et al. 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.
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J, Dispenzieri A, Grogan M, Coelho T, Tournev I, Waddington-Cruz M, Wixner J, Diemberger I, Garcia-Pavia P, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators. González-Moreno J, et al. Cardiol Ther. 2024 Mar;13(1):117-135. doi: 10.1007/s40119-023-00344-3. Epub 2023 Dec 20. Cardiol Ther. 2024. PMID: 38117424 Free PMC article.
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Díaz-Manera J, Gallardo E. Carrasco-Rozas A, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12. Ann Clin Transl Neurol. 2019. PMID: 31353854 Free PMC article. Clinical Trial.