Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Gloria Liliana Porras-Hurtado"'
Autor:
Juan Pablo Velasquez-Minoli, Natalia Cardona-Ramirez, Hernan Felipe Garcia-Arias, Feliza Restrepo-Restrepo, Gloria Liliana Porras-Hurtado
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Abstract Background Hypoxic-ischemic encephalopathy (HIE) appears in neurological conditions where some brain areas are likely to be injured, such as deep grey matter, basal ganglia area, and white matter subcortical periventricular áreas. Moreover,
Externí odkaz:
https://doaj.org/article/a9cc8d44f05b4fa5aa8219808d74c955
Autor:
Franklin Hanna Rodriguez, Jorge Mario Estrada, Henry Mauricio Arenas Quintero, Juan Patricio Nogueira, Gloria Liliana Porras-Hurtado
Publikováno v:
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-9 (2023)
Abstract Background and aim Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicronemia syndrome (MCS) is
Externí odkaz:
https://doaj.org/article/a3f84956a19c4f3d8f59ff30ea71d23c
Autor:
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)
Abstract Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase. MPS IVA patients usually
Externí odkaz:
https://doaj.org/article/f0fb260f41ed4795bd194a39e13c55a0
Autor:
Juan Pablo Orozco-Hernández, Juan José Montoya-Martínez, Manuel Conrado Pacheco-Gallego, Mauricio Céspedes-Roncancio, Gloria Liliana Porras-Hurtado
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 40, Iss Supl. 2, Pp 34-43 (2020)
La actual pandemia por SARS-CoV-2 ha ocasionado un enorme problema de salud pública mundial. Se reporta el caso de una paciente adulta joven con SARS-CoV-2 confirmado por laboratorio. Se describe la identificación del virus y el curso clínico, el
Externí odkaz:
https://doaj.org/article/667e58f19e8c469fa09c469e111ffc59
Autor:
Natalia Castaño-Rodríguez, Georgia L. Popple, Gloria Liliana Porras-Hurtado, José Luis Cardona-Deazza, Juan José Montoya-Martinez, Antonio Javier Cadavid-Velez, Héctor William Toro-Hidalgo, Alba Ruth Cobo-Alvarado, Ofelia del Socorro Hincapié-Rincón, Stephen M. Riordan, Nadeem O. Kaakoush
Publikováno v:
Biomarker Research, Vol 6, Iss 1, Pp 1-7 (2018)
Abstract OPCML hypermethylation is considered a promising cancer biomarker. We examined methylation levels in the first exon of OPCML in two patient cohorts within the esophageal adenocarcinoma and gastric adenocarcinoma cascades and in a range of ce
Externí odkaz:
https://doaj.org/article/450c677138a24efe9136cf49e6623f48
Publikováno v:
Revista de la Facultad de Medicina, Vol 66, Iss 2, Pp 223-227 (2018)
Introduction: Congenital craniofacial malformations have a major impact on the lives of children and their relatives when the face is compromised since they may present along with cognitive deficits or altered facial appearance. There are no conclusi
Externí odkaz:
https://doaj.org/article/3c4c1c312a5b41c88b72576d1df00000
Autor:
Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, Sandra Lorena Quiceno, Juan José Montoya, Harry Pachajoa
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 36, Iss 4 (2016)
Introducción. Datos sobre defectos congénitos de pequeñas regiones de países en desarrollo como Colombia son escasos. Objetivo. Describir la prevalencia de anomalías congénitas en el departamento de Risaralda, Colombia. Materiales y Métodos.
Externí odkaz:
https://doaj.org/article/78ffbc481068419dad0942151e48d036
Autor:
Lapunzina, Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo
Publikováno v:
Genes; Volume 14; Issue 6; Pages: 1179
SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan–Lumish syndrome (LLS), intellectual developmental disorder,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::cd246f073a7cf5c3321d3fd4890debda
Autor:
Liliana Romo-Erazo, Raúl Pérez-Restrepo, Juan Pablo Orozco-Hernández, Jorge Mario Estrada-Álvarez, Gloria Liliana Porras-Hurtado
Publikováno v:
Revista Médicas UIS. 35
La mucopolisacaridosis tipo IV-A es un trastorno de almacenamiento lisosómico poco frecuente, cuya manifestación clínica más evidente es la disostosis múltiple. Alteraciones multiorgánicas se han descrito en este tipo de pacientes, sin embargo,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f991283cbf54ab61887c36b1fb2a14d
https://doi.org/10.18273/revmed.v35n3-2022002
https://doi.org/10.18273/revmed.v35n3-2022002
Autor:
Franklin Hanna Rodriguez, Jorge Mario Estrada Alvarez, Henry Mauricio Arenas Quintero, Juan Patricio Nogueira, Gloria Liliana Porras Hurtado
Background and aim Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicronemia syndrome (MCS) is a polygen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58f1113e3c1eb65f2462e62afdf4e105
https://doi.org/10.21203/rs.3.rs-2154973/v1
https://doi.org/10.21203/rs.3.rs-2154973/v1
