Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

por Rodriguez, Franklin Hanna, Estrada, Jorge Mario, Quintero, Henry Mauricio Arenas, Nogueira, Juan Patricio, Porras-Hurtado, Gloria Liliana
Publicado 2023

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

por Politei, Juan, Porras‐Hurtado, Gloria Liliana, Guelbert, Norberto, Fainboim, Alejandro, Horovitz, Dafne Dain Gandelman, Satizábal, José María
Publicado 2021

Coinfección por SARS-CoV-2 y rinovirus-enterovirus en una paciente adulta joven críticamente enferma en Colombia

por Orozco-Hernández, Juan Pablo, Montoya-Martínez, Juan José, Pacheco-Gallego, Manuel Conrado, Céspedes-Roncancio, Mauricio, Porras-Hurtado, Gloria Liliana
Publicado 2020

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

por Tapiero-Rodriguez, Sandra M, Acosta Guio, Johanna C, Porras-Hurtado, Gloria Liliana, García, Natalia, Solano, Martha, Pachajoa, Harry, Velasco, Harvy M
Publicado 2018

Alternative Foods in Cardio-Healthy Dietary Models that Improve Postprandial Lipemia and Insulinemia in Obese People

por Muñoz-Perez, Diana Maria, Gonzalez-Correa, Clara Helena, Astudillo-Muñoz, Elcy Yaned, Porras-Hurtado, Gloria Liliana, Sanchez-Giraldo, Maite, Lopez-Miranda, Jose, Camargo, Antonio, Rangel-Zuñiga, Oriol Alberto
Publicado 2021

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

por Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Publicado 2021

OPCML is hypermethylated in a subset of patients with metaplastic changes in their esophagus

por Castaño-Rodríguez, Natalia, Popple, Georgia L., Porras-Hurtado, Gloria Liliana, Cardona-Deazza, José Luis, Montoya-Martinez, Juan José, Cadavid-Velez, Antonio Javier, Toro-Hidalgo, Héctor William, Cobo-Alvarado, Alba Ruth, del Socorro Hincapié-Rincón, Ofelia, Riordan, Stephen M., Kaakoush, Nadeem O.
Publicado 2018

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

por Parra, Alejandro, Rabin, Rachel, Pappas, John, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, Santana, Alfredo, Arroyo, Ignacio, Artigas, Mercè, Pachajoa, Harry, Alanay, Yasemin, Akgun-Dogan, Ozlem, Ruaud, Lyse, Couque, Nathalie, Levy, Jonathan, Porras-Hurtado, Gloria Liliana, Santos-Simarro, Fernando, Ballesta-Martinez, Maria Juliana, Guillén-Navarro, Encarna, Muñoz-Hernández, Hugo, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Publicado 2023