Search Results - "Vela‐Amieva, M."

Composition of gut microbiota in obese and normal‐weight Mexican school‐age children and its association with metabolic traits by López‐Contreras, B. E., Morán‐Ramos, S., Villarruel‐Vázquez, R., Macías‐Kauffer, L., Villamil‐Ramírez, H., León‐Mimila, P., Vega‐Badillo, J., Sánchez‐Muñoz, F., Llanos‐Moreno, L. E., Canizalez‐Román, A., Río‐Navarro, B., Ibarra‐González, I., Vela‐Amieva, M., Villarreal‐Molina, T., Ochoa‐Leyva, A., Aguilar‐Salinas, C. A., Canizales‐Quinteros, S.

“…Summary Background Childhood obesity is a serious public health problem in Mexico. Adult gut microbiota composition has been linked to obesity, but few studies…”
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Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center by Vela-Amieva, M., Alcántara-Ortigoza, M. A., Ibarra-González, I., González-del Angel, A., Fernández-Hernández, L., Guillén-López, S., López-Mejía, L., Carrillo-Nieto, R. I., Fiesco-Roa, M. O., Fernández-Lainez, C.

“…Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin…”
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Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect by Vela-Amieva, M., Abreu-González, M., González-del Angel, A., Ibarra-González, I., Fernández-Lainez, C., Barrientos-Ríos, R., Monroy-Santoyo, S., Guillén-López, S., Alcántara-Ortigoza, M.A.

“…The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a…”
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Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: abnormal profile interpretation by Fernández-Lainez, C, Aguilar-Lemus, J J, Vela-Amieva, M, Ibarra-González, I

“…Expanded newborn screening for inherited metabolic disorders using tandem mass spectrometry was introduced in 1990's and is widely used around the world. In…”
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Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns by González-del Angel, A., Bermúdez-López, C., Alcántara-Ortigoza, M. A., Vela-Amieva, M., Castillo-Cruz, R. A., Martínez, V., Torres-Espíndola, L.

“…Background:  Thiopurine S‐methyltransferase (TPMT) is involved in the toxicity and therapeutic efficacy of thiopurine drugs, and its gene exhibits genetic…”
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Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia by Velázquez-Aragón, J., Alcántara-Ortigoza, M. A., Vela-Amieva, M., Monroy, S., Martínez-Cruz, V., Todd-Quiñones, C., González-del Angel, A.

“…Summary Classical galactosaemia is an autosomal recessive disease of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate…”
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Characterization of inborn errors of intermediary metabolism in mexican patients by Ibarra-González, I, Fernández-Lainez, C, Belmont-Martínez, L, Guillén-López, S, Monroy-Santoyo, S, Vela-Amieva, M

“…Inborn errors of intermediary metabolism (IEiM) are a group of heterogeneous genetic diseases that are diagnostically challenging and cause significant…”
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IgM and IgE levels in serum and filter paper-embedded blood from umbilical cord of newborns attended in a general hospital of Mexico by Hernandez-Islas, J.-L, Murrieta, S, Caballero-Ortega, H, Tecuatl-Herrada, B.L, Vela-Amieva, M, Torres, M.P. Escobedo, Correa, D

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Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico by Vela-Amieva, M, Ibarra-González, I, Fernández-Lainez, C, Monroy-Santoyo, S, Guillén-López, S, Belmont-Martínez, L, Hernández-Montiel, A

“…To expose causes leading to the delayed arrival of phenylketonuria (PKU) patients at a governmental reference centre (RC), and to describe their clinical…”
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P.11 Comparison of nutritional status and metabolic control in PKU infants with breastmilk vs infant formula in Mexico by Guillén-López, S, López-Mejía, L, Vela-Amieva, M, Fernández-Lainez, C, Ibarra-González, I

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Caracterización de errores innatos del metabolismo intermediario en pacientes mexicanos by Ibarra-González, I, Fernández-Lainez, C, Belmont-Martínez, L, Guillén-López, S, Monroy-Santoyo, S, Vela-Amieva, M

“…Resumen Introducción Los errores innatos del metabolismo intermediario (EIMi) son enfermedades genéticas heterogéneas que causan importante morbimortalidad y…”
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Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH 4 responsiveness and evidence of a founder effect by Vela‐Amieva, M., Abreu‐González, M., González‐del Angel, A., Ibarra‐González, I., Fernández‐Lainez, C., Barrientos‐Ríos, R., Monroy‐Santoyo, S., Guillén‐López, S., Alcántara‐Ortigoza, M.A.

“…The mutational spectrum of the phenylalanine hydroxylase gene ( PAH ) in Mexico is unknown, although it has been suggested that PKU variants could have a…”
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Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay by Alcántara-Ortigoza, Miguel Angel, Belmont-Martínez, Leticia, Vela-Amieva, Marcela, González-Del Angel, Ariadna

“…Identify CTNS gene mutations in nephropathic cystinosis Mexican patients. Eleven patients were included, nine presenting infantile nephropathic cystinosis and…”
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Thiopurine S -methyltransferase ( TPMT ) genetic polymorphisms in Mexican newborns: TPMT polymorphisms in newborns from Mexico City by González-del Angel, A., Bermúdez-López, C., Alcántara-Ortigoza, M. A., Vela-Amieva, M., Castillo-Cruz, R. A., Martínez, V., Torres-Espíndola, L.

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Pearl S. Buck, Literature Nobel Price, and phenylketonuria: a moving relationship by Vela Amieva, M

“…Art and Medicine, in some occasions have singular contact points. An example of this is the life of the North American writer Pearl S. Buck, a Litterature…”
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Short report: neonatal screening pilot study of Toxoplasma gondii congenital infection in Mexico by Vela-Amieva, Marcela, Cañedo-Solares, Irma, Gutiérrez-Castrellón, Pedro, Pérez-Andrade, Martha, González-Contreras, Claudia, Ortíz-Cortés, Joel, Ortega-Velázquez, Venancio, Galván-Ramírez, Maria de la Luz, Ruiz-García, Matilde, Saltigeral-Simentel, Patrica, Ordaz-Favila, Juan Carlos, Sánchez, Carmen, Correa, Dolores

“…Congenital toxoplasmosis is an obstetric problem in Mexico, but its actual frequency is unknown. Using a network for screening of non-infectious disorders, we…”
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Crisis neuropática por suspensión de nitisinona en una paciente con tirosinemia: informe de un caso by Ibarra-González, Isabel, Belmont-Martínez, Leticia, Cervantes-Bustamante, Roberto, Zárate-Mondragón, Flora, Guillén-López, Sara, Fernández-Lainez, Cynthia, Revilla-Estivil, Nuria, Vela-Amieva, Marcela

“…Se presenta el caso de una paciente con tirosinemia hepatorrenal (TYR- 1) que, debido a la interrupción por cuatro semanas de tratamiento con nitisinona, tuvo…”
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Epidemiology of congenital hypothyroidism in Mexico by Vela-Amieva, Marcela, Gamboa-Cardiel, Salvador, Pérez-Andrade, Martha E, Ortiz-Cortés, Joel, González-Contreras, Claudia R, Ortega-Velázquez, Venancio

“…To describe the epidemiological characteristics of congenital hypothyroidism (CH) in newborns (NB) detected by the Ministry of Health of Mexico (SSA). A…”
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Diagnosis of Inborn Errors of Metabolism by Velázquez, Antonio, Vela-Amieva, Marcela, Cicerón-Arellano, Isabel, Ibarra-González, Isabel, Pérez-Andrade, Martha Elva, Olivares-Sandoval, Zazil, Jiménez-Sánchez, Gerardo

“…Systematic detection of inborn errors of metabolism (IEM) has usually encountered difficulties in developing countries. We present our experience in a…”
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Hyperthyrotropinemia in Mexican newborns by Vela-Amieva, Marcela, Hernández-Osorio, Crescencio, Gamboa-Cardiel, Salvador, González-Contreras, Claudia R, Pérez-Andrade, Martha Elva, Ortiz-Cortés, Joel, Aguirre-Vélez, Blanca E

“…To assess the differences in the blood concentration levels of the thyroid stimulating hormone and their possible use as an indicator of iodine sufficiency, in…”
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