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Journal of Inherited Metabolic Disease|February 1, 2026
Global Access to IMD Drugs: Bridging the Gap Between High-Income Countries and Latin AmericaJuan Francisco Cabello, Rodrigo SalinasAndes Pediatrica : Revista Chilena De Pediatria|September 3, 2021
[Hepatic glycogen storage diseases: Symptoms, management and associated mutations]Catalina Grez, Magdalena Araya, Juan Francisco CabelloArchivos Latinoamericanos De Nutricion|April 28, 2006
[Lipids composition diet in phenylketonuric children with early diagnosis]Verónica Cornejo, Miluska Concha, Juan Francisco Cabello, et al.Journal of Personalized Medicine|January 27, 2026
Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic ReviewJessica Ramirez, María Jesús Leal-Witt, Juan Francisco Cabello, et al.Molecular Genetics and Metabolism Reports|April 6, 2017
Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted dietMaría Ignacia García, Alicia de la Parra, Carolina Arias, et al.JIMD Reports|October 14, 2015
Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)Karen Campo, Gabriela Castro, Valerie Hamilton, et al.Molecular Genetics and Metabolism Reports|October 13, 2017
First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKUAlicia de la Parra, María Ignacia García, Valerie Hamilton, et al.Nutrients|July 14, 2023
Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted DietEugenia Rojas-Agurto, María Jesús Leal-Witt, Carolina Arias, et al.Medicina|August 16, 2012
[Gaucher disease in Latin America. A report from the Gaucher Disease International Registry and the Latin American Group for Gaucher Disease]Guillermo Drelichman, Adriana Linares, Jacobo Villalobos, et al.Revista Medica De Chile|June 29, 2012
[Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)]Erna Raimann, Verónica Cornejo, Carolina Arias, et al.Pageof 2