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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM. Guelbert N, et al. Among authors: mancilla ni. Mol Genet Metab Rep. 2024 Feb 1;38:101060. doi: 10.1016/j.ymgmr.2024.101060. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469103 Free PMC article.
SenSARS: A Low-Cost Portable Electrochemical System for Ultra-Sensitive, Near Real-Time, Diagnostics of SARS-CoV-2 Infections.
Perdomo SA, Ortega V, Jaramillo-Botero A, Mancilla N, Mosquera-DeLaCruz JH, Valencia DP, Quimbaya M, Contreras JD, Velez GE, Loaiza OA, Gomez A, de la Roche J. Perdomo SA, et al. Among authors: mancilla n. IEEE Trans Instrum Meas. 2021 Oct 8;70:4007710. doi: 10.1109/TIM.2021.3119147. eCollection 2021. IEEE Trans Instrum Meas. 2021. PMID: 35582002 Free PMC article.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Lourenço CM, Pessoa A, Mendes CC, Rivera-Nieto C, Vergara D, Troncoso M, Gardner E, Mallorens F, Tavera L, Lizcano LA, Atanacio N, Guelbert N, Specola N, Mancilla N, de Souza CFM, Mole SE. Lourenço CM, et al. Among authors: mancilla n. J Paediatr Child Health. 2021 Apr;57(4):519-525. doi: 10.1111/jpc.15250. Epub 2020 Dec 30. J Paediatr Child Health. 2021. PMID: 33377563 Free PMC article.