Results 1 to 10 of about 2,279 (186)

ERRORES INNATOS DEL METABOLISMO [PDF]

Revista Médica Clínica Las Condes, 2015
Los Errores Innatos del Metabolismo (EIM) son un grupo de condiciones caracterizadas por el acúmulo de sustancias tóxicas producido habitualmente por un defecto enzimático. Su relevancia dentro del grupo de las Enfermedades Raras, es que son consideradas
Juan Francisco Cabello A., Dr., Roberto Giugliani, Dr.   +1 more
doaj   +9 more sources

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism [PDF]

International Journal of Neonatal Screening, 2023
Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities.
Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Nidia Alejandra Guillén-Zaragoza   +7 more
doaj   +2 more sources

Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

Boletín Médico del Hospital Infantil de México, 2022
Los errores innatos del metabolismo intermediario (EIMi) son un grupo de enfermedades monogénicas que afectan alguna vía del metabolismo de las proteínas, los hidratos de carbono o los lípidos; cuando no son tratados a tiempo, se asocian con una elevada ...
Lizbeth López-Mejía, Sara Guillén-López, Marcela Vela-Amieva, Rosa I. Carrillo-Nieto   +3 more
doaj   +3 more sources

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening [PDF]

Children, 2023
Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH).
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Cynthia Fernández-Lainez   +7 more
doaj   +2 more sources

Metabolic impact of infant formulas in young infants. An outlook from the urine metabolome [PDF]

Heliyon, 2022
Introduction: Although breast milk is the ideal food source for newborns during the first six months of life, a high percentage of children receive infant formulas.
Angie Marcela Calvo Barbosa, Stefany Casallas Cortes, Ninna Pulido, Martha Yaneth Parra, Alexander Rodríguez-López, Johana Guevara-Morales, Olga Yaneth Echeverri-Peña   +6 more
doaj   +2 more sources

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect [PDF]

Molecular Genetics and Metabolism Reports
Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date: MMUT (MIM *609058), MMAA (MIM *607481, MMAB (MIM *607568 ...
Cynthia Fernández-Lainez, Marcela Vela-Amieva, Miriam Reyna-Fabián, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Angel, Rosa Itzel Carrillo-Nieto, Enrique Ortega-Valdez, Mauricio Rojas-Maruri, Cecilia Ridaura-Sanz   +11 more
doaj   +2 more sources

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center [PDF]

Frontiers in Genetics, 2022
Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico ...
M. Vela-Amieva, M. A. Alcántara-Ortigoza, I. Ibarra-González, A. González-del Angel, L. Fernández-Hernández, S. Guillén-López, L. López-Mejía, R. I. Carrillo-Nieto, M. O. Fiesco-Roa, M. O. Fiesco-Roa, C. Fernández-Lainez   +10 more
doaj   +2 more sources

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center [PDF]

Molecular Genetics and Metabolism Reports
Arginase deficiency (ARG1d) is an inborn error of metabolism caused by pathogenic variants in ARG1 gene, which causes a defective hydrolysis of arginine (Arg) to urea and ornithine. The molecular landscape of ARG1d in Mexico is poorly known.
M. Vela-Amieva, C. Fernández-Lainez, S. Guillén-López, L. López-Mejía, M.A. Alcántara-Ortigoza, A. González del Angel, L. Fernández-Hernández, M.E. Reyna-Fabián, B. Estandía-Ortega, I. Ibarra-González, S.W. Ryu, H. Lee   +11 more
doaj   +2 more sources

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report [PDF]

Frontiers in Nutrition
Ornithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the OTC gene, located on chromosome X.
Álvaro Martín-Rivada, Mercedes Murray Hurtado, Elena Martín-Hernández   +2 more
doaj   +2 more sources

Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose–galactose transporter SLC5A1 [PDF]

Frontiers in Pediatrics
IntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea.
Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña   +8 more
doaj   +2 more sources