Zobrazeno 1 - 10
of 132
pro vyhledávání: '"Marcela Vela Amieva"'
Autor:
Soraia Poloni, Bruna Bento dos Santos, Ana Chiesa, Norma Specola, Marcela Pereyra, Manuel Saborío-Rocafort, María Florencia Salazar, María Jesús Leal-Witt, Gabriela Castro, Felipe Peñaloza, Sunling Palma Wong, Ramsés Badilla Porras, Lourdes Ortiz Paranza, Marta Cristina Sanabria, Marcela Vela Amieva, Marco Morales, Amanda Rocío Caro Naranjo, Antonieta Mahfoud, Ana Rosa Colmenares, Aida Lemes, José Fernando Sotillo-Lindo, Ceila Perez, Laritza Martínez Rey, Georgina María Zayas Torriente, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz, Veronica Cornejo
Publikováno v:
Nutrients, Vol 13, Iss 8, p 2566 (2021)
This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After
Externí odkaz:
https://doaj.org/article/ad97cad67b3a42a693279879fe3c78d8
Autor:
Lizbeth Alejandra López-Mejía, Marcela Vela-Amieva, Sara Guillén-López, Daniela Mancera-Hernández, Isabel Ibarra-González, Edgar Alejandro Medina-Torres, Sara Elva Espinosa-Padilla, Cynthia Fernández-Lainez
Publikováno v:
Nutrients, Vol 16, Iss 11, p 1775 (2024)
Propionate defects (PDs) mainly include methylmalonic (MMA) and propionic acidemia (PA) defects. Lifelong PD patients progress from the compensated to the decompensated stages, the latter of which are characterized by life-threatening acidemia and hy
Externí odkaz:
https://doaj.org/article/54f9a413d3a347e4af8354ee97654828
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:
Nicole Miller, Heraclio Gutierrez, Omid Japalaghi, Laura Konczal, Deborah Marsden, Markey McNutt, Ana Morales, Marcela Vela-Amieva, Vanessa Rangel Miller
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100907- (2024)
Externí odkaz:
https://doaj.org/article/bba20e232a044c45aaad5ee812b8db8a
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
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:
Nuria Esturau-Escofet, Eduardo Rodríguez de San Miguel, Marcela Vela-Amieva, Martha E. García-Aguilera, Circe C. Hernández-Espino, Luis Macias-Kauffer, Carlos López-Candiani, José J. Naveja, Isabel Ibarra-González
Publikováno v:
Metabolites, Vol 12, Iss 3, p 255 (2022)
Preterm newborns are extremely vulnerable to morbidities, complications, and death. Preterm birth is a global public health problem due to its socioeconomic burden. Nurturing preterm newborns is a critical medical issue because they have limited nutr
Externí odkaz:
https://doaj.org/article/907baacad6c94fb7a08216c296232799
Autor:
Marcela Vela-Amieva, Cynthia Fernández-Lainez, Isabel Ibarra González, Leticia Belmont Martínez, Rosa Itzel Carrillo-Nieto, Lizbeth López-Mejía, Sara Guillén López
Publikováno v:
Acta Pediátrica de México. 44:75-82
Los errores innatos del metabolismo intermedio (EIMi) son un grupo heterogéneo de enfermedades monogénicas pertenecientes al grupo de las enfermedades raras (ER), que afectan vías metabólicas de la síntesis o catabolismo de los hidratos de carbo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fa28489eba8ca57d8b7c3c8d2d043a9
https://doi.org/10.18233/apm44no1pp75-822573
https://doi.org/10.18233/apm44no1pp75-822573