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Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.
Llerena J Jr, Rosselli P, Aragão A, Valenzuela C, Bertola D, Mendez Y, Del Pino M, Calvacanti N, Thomazinho P, Pimenta JM, Cohen S, Butt T, Thomaz JC Jr, Shediac R, Rowell R, Magalhães TSPC, Kim C, Fano V. Llerena J Jr, et al. Genet Med Open. 2023 Nov 18;2:100843. doi: 10.1016/j.gimo.2023.100843. eCollection 2024. Genet Med Open. 2023. PMID: 39669637 Free PMC article.
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC Jr, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT. Berger KI, et al. Among authors: llerena jc jr. J Neurol. 2024 Aug;271(8):5433-5446. doi: 10.1007/s00415-024-12489-9. Epub 2024 Jun 19. J Neurol. 2024. PMID: 38896264 Free PMC article.
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena J Jr, Gonzalez S. Chaves Rabelo N, et al. Among authors: llerena j jr. Appl Clin Genet. 2022 Oct 21;15:153-170. doi: 10.2147/TACG.S372761. eCollection 2022. Appl Clin Genet. 2022. PMID: 36304179 Free PMC article.
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Llerena J Jr, Kim CA, Fano V, Rosselli P, Collett-Solberg PF, de Medeiros PFV, Del Pino M, Bertola D, Lourenço CM, Cavalcanti DP, Félix TM, Rosa-Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Ruz MCH, Baratela W. Llerena J Jr, et al. BMC Pediatr. 2022 Aug 19;22(1):492. doi: 10.1186/s12887-022-03505-w. BMC Pediatr. 2022. PMID: 35986266 Free PMC article.
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF, Mattos D, de Carvalho FM, Cavalcanti DP, Duenas-Roque MM, Llerena J Jr, Cosentino VR, Honjo RS, Leite JCL, Sanseverino MT, de Souza MPA, Bernardi P, Bolognese AM, Santana da Silva LC, Barbero P, Correia PS, Bueno LSM, Savastano CP, Orioli IM. de Castro VF, et al. Among authors: llerena j jr. Mol Syndromol. 2021 Jul;12(4):219-233. doi: 10.1159/000515044. Epub 2021 Jun 15. Mol Syndromol. 2021. PMID: 34421500 Free PMC article.
77 results