Results 71 to 80 of about 293 (143)

[When rare diseases become urgent: inborn errors of metabolism in primary care]. [PDF]

Aten Primaria, 2009
González-Lamuño D, Couce ML, Amor Bueno M, Aldámiz-Echevarría L.   +3 more
europepmc   +1 more source

Implication of myddosome complex genetic variants in outcome severity of COVID-19 patients. [PDF]

J Microbiol Immunol Infect, 2023
Martínez-Gómez LE, Martinez-Armenta C, Medina-Luna D, Ordoñez-Sánchez ML, Tusie-Luna T, Ortega-Peña S, Herrera-López B, Suarez-Ahedo C, Jimenez-Gutierrez GE, Hidalgo-Bravo A, Vázquez-Cárdenas P, Vidal-Vázquez RP, Ramírez-Hinojosa JP, Martinez Matsumoto PM, Vargas-Alarcón G, Posadas-Sánchez R, Fragoso JM, Martínez-Ruiz FJ, Zayago-Angeles DM, Mata-Miranda MM, Vázquez-Zapién GJ, Martínez-Cuazitl A, Andrade-Alvarado J, Granados J, Ramos-Tavera L, Camacho-Rea MDC, Segura-Kato Y, Rodríguez-Pérez JM, Coronado-Zarco R, Franco-Cendejas R, López-Jácome LE, Magaña JJ, Vela-Amieva M, Pineda C, Martínez-Nava GA, López-Reyes A.   +35 more
europepmc   +1 more source

Tolerance and response to ketogenic therapy in neonates and infants younger than 4 months. Case series in a hospital center in Medellin, Colombia. [PDF]

Rev Neurol, 2022
Serrano-Tabares C, Trujillo-Gómez J, Morales-Gil RM, Aguilar-Pérez Y, Jiménez-Villegas MJ.   +4 more
europepmc   +1 more source

Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function [PDF]

Biomedica
Valerio-Gómez V, Pérez-Blanco U, Velázquez-Sámano G, Velasco-Medina AA, Albarrán A, Sánchez IY, Berrón-Ruiz L, Espinosa-Padilla S, Blancas-Galicia L.   +8 more
europepmc   +1 more source

High Iodine Urinary Concentration Is Associated with High TSH Levels but Not with Nutrition Status in Schoolchildren of Northeastern Mexico. [PDF]

Nutrients, 2021
Gonzalez-Nunez A, García-Solís P, Ramirez-Garcia SG, Flores-Ramirez G, Vela-Amieva M, Lara-Díaz VJ, Rojas-Martínez A.   +6 more
europepmc   +1 more source

Errores innatos del metabolismo de la tirosina: diagnóstico y tratamiento de la tirosinemia Tipo I

, 2022
Los EIM son un conjunto de enfermedades causadas por mutaciones del DNA que dan lugar a la codificación de proteínas anómalas, en concreto enzimas o coenzimas de determinadas rutas metabólicas, provocando un funcionamiento defectuoso de las células y órganos.
openaire   +1 more source

Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study. [PDF]

Nutrients
López-Mejía L, Guillén-López S, Vela-Amieva M, Fernández-Lainez C, Castro-Monroy L.   +4 more
europepmc   +1 more source

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia. [PDF]

Int J Mol Sci
Alcántara-Ortigoza MA, Vela-Amieva M, González-Del Angel A, Reyna-Fabián ME, Fernández-Hernández L, Estandía-Ortega B, Guillén-López S, López-Mejía L, Ibarra-González I, Ruiz-Reyes ML, Calzada-de León R, Rojas-Maruri M, Zárate-Mondragón F, Hun-Seo G, Lee H, Fernández-Lainez C, Rare Diseases Mexican Effort Group (RaDiMEG).   +16 more
europepmc   +1 more source

Insomnia, Cognitive Impairment, or a Combination of Both, Alter Lipid Metabolism Due to Changes in Acylcarnitine Concentration in Older Persons. [PDF]

Metabolites
Castillo-Vazquez SK, Palacios-González B, Vela-Amieva M, Ibarra-González I, Morales R, García-delaTorre P, Sánchez-García S, García-Peña C, Reyes-Chilpa R, Medina-Campos RH, Hernández-Pineda J, Gomez-Verjan JC, Rivero-Segura NA.   +12 more
europepmc   +1 more source

Development and Validation of a Targeted Metabolomic Tool for Metabotype Classification in Schoolchildren. [PDF]

Metabolites
Hernández-Ramírez SK, Velázquez-Trejo DA, Sandoval-Colín E, Fresno C, Flores-Torres M, Polo-Oteyza E, Garcés-Hernández MJ, Garibay-Nieto N, Ibarra-González I, Vela-Amieva M, Estrada-Gutierrez G, Vadillo-Ortega F.   +11 more
europepmc   +1 more source