Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Sara Guillén-Lopez"'
Autor:
Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and
Externí odkaz:
https://doaj.org/article/b6549e36415348fcba1bbe6971aca594
Autor:
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
Publikováno v:
Children, Vol 10, Iss 12, p 1865 (2023)
Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neuro
Externí odkaz:
https://doaj.org/article/c14e580e5b574c1696197076f2938c9c
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 59 (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. Expanded NBS in Mexico is not mandato
Externí odkaz:
https://doaj.org/article/a012557f2ace4c10bb76252f4d07282e
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 79, Iss 3 (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
Externí odkaz:
https://doaj.org/article/3c41aaa4f35d42ffb6fadc39bb4f6a0b
Autor:
Isabel Ibarra-González, Cynthia Fernández-Lainez, Sara Guillén-López, Lizbeth López-Mejía, Leticia Belmont-Martínez, Rosa Itzel Nieto-Carrillo, Marcela Vela-Amieva
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services. Ai
Externí odkaz:
https://doaj.org/article/ab7d5069b9ca477b8cdc7b3b3797058d
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 78, Iss 6 (2021)
La fenilcetonuria y otras hiperfenilalaninemias son enfermedades genéticas cuya detección actualmente es obligatoria en México, tanto en el sector público como en el privado. La detección y el tratamiento oportunos han demostrado prevenir las ma
Externí odkaz:
https://doaj.org/article/703e8a42c1524484b2be20896ede2f51
Autor:
Isabel Ibarra-González, Leticia Belmont-Martínez, Roberto Cervantes-Bustamante, Flora Zárate-Mondragón, Sara Guillén-López, Cynthia Fernández-Lainez, Nuria Revilla-Estivil, Marcela Vela-Amieva
Publikováno v:
Acta Pediátrica de México, Vol 38, Iss 5, Pp 322-329 (2017)
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 una grave crisis neurológica de pseudoporfiria caracterizada por vómito, dolor abdominal
Externí odkaz:
https://doaj.org/article/be4d602c454f4676bf9ca75184cc4614
Autor:
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum unde
Externí odkaz:
https://doaj.org/article/1037b1006f50463889fc0583d990d0ca
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 315-318 (2014)
In order to diagnose the nutritional status and to provide a personalized treatment in PKU patients, an evaluation of nutritional status should be conducted. Several components are involved in the nutritional assessment; among the parameters there ar
Externí odkaz:
https://doaj.org/article/8a296ab6f4f2447597dcbe969474dfdf
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 335-339 (2014)
Patients with hyperphenylalaninemia (HFA) must follow a restricted protein diet, which deprives them of natural dietary sources of polyunsaturated fatty acids (LC-PUFA) that lead to neurological deficits, not related to high phenylalanine blood level
Externí odkaz:
https://doaj.org/article/be638f2753104c05abc71acb2ebf30d5