Desarrollo de estrategias basada en la metabolómica y análisis de datos para el desarrollo de la medicina de precisión y traslacional en el campo de las enfermedades genéticas del metabolismo

Presentaciones a congresos:
2022. Gudenschwager C., Fuenzalida K., Leal-Witt MJ., Arias C., Cornejo V., Acevedo A. INTA-Universidad de Chile. “A machine-learning approach to define-through clinical and biochemical biomarkers-subtypes of tyrosinemia type-1 patients under active follow-up”. XII Congreso de la Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal (SLEIMPN). Punta Cana, Rep. Dominicana 4-7 Mayo. Premio mejor presentación categoría Poster.

2022. Fuenzalida K., M.J. Leal-Witt, P. Guerrero, C. Arias , V. Cornejo. INTA- Universidad de Chile.“Differences in the metabolic profile of Tyrosinemic type-1 patients under medium and long-term treatment with nitisinone”. XII Congreso de la Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal (SLEIMPN). Punta Cana, Rep. Dominicana 4-7 Mayo.

2021. Fuenzalida K., M.J. Leal-Witt, P. Guerrero, C. Arias, V. Cornejo. Instituto de Nutrición y Tecnología de los Alimentos-INTA, Universidad de Chile. “Biochemical and liver biomarkers monitoring in Chilean hereditary tyrosinemic type-1 patients under NTBC treatment and protein-restricted diet. XV International Congress of Pediatric Laboratory Medicine. Munich 26-27 Nov. (Virtual Meeting). Oral communication.

2021. Fuenzalida K(1)., Rizzo C(2). (1) Instituto de Nutrición y Tecnología de los Alimentos-INTA, Universidad de Chile; (2) Ospedale Pediatrico Bambino Gesu, Metabolic Disease Unit, Rome, Italy. “Experiences and future advances in diagnosis and treatment of inborn errors of metabolism in National Reference Centers in Chile and Italy”. Second Chile-Italia Academic Forum: Food and Health. Bologna, Italy (Virtual meeting). 21-23 September..

2019. Fuenzalida K1. Guerrero P1., Faundez A1., Valiente A1., Turner C.2, and Cornejo V. 1 1Instituto de Nutrición y Tecnología de los Alimentos-INTA, Universidad de Chile; 2WellChild Laboratory, Evelina London Children’s Hospital, London. “Nitisinone detection by LCMSMS in dried blood spot and plasma samples in Chilean Tyrosinemia 1 patients in follow up. Validation sample levels with nitisinone developed method in Wellchild Laboratory, Evelina Children’s Hospital, London”. XI Congreso de la Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal (SLEIMPN)”. 12-15 May 2019. Buenos Aires, Argentina.

2017. Fuenzalida K. Lobos J., Arias C., Sanchez M., Betta K., Cabello JF. “Overview of organic acidemia diagnosis and other inborn errors of metabolism from a reference center in Chile”. 13th International Congress of Inborn Errors of Metabolism. 5-8 September. Rio de Janeiro, Brazil.

2015. Fuenzalida K. Betta K., Arias C., Sanchez M., Valiente A., Cornejo V., Cabello JF. “Organic Acidurias in Chile: Evaluation after a year of implementation of urinary organic acids test by GCMS”. X Latin American Congress of Inborn Errors of Metabolism and Neonatal Screening. 17-20 Nov. 2015, Santiago, Chile.