Zobrazeno 1 - 10
of 12
pro vyhledávání: '"María Jesús Leal-Witt"'
Autor:
María Florencia Salazar, María Jesús Leal-Witt, Valentina Parga, Carolina Arias, Verónica Cornejo
Publikováno v:
Frontiers in Nutrition, Vol 11 (2024)
IntroductionGlucose transporter type 1 deficiency syndrome (GLUT1-DS) is a neurological disorder caused by mutations in the SLC2A1 gene. The main treatment is ketogenic diet therapy (KDT), which changes the brain’s energy substrate from glucose to
Externí odkaz:
https://doaj.org/article/885abf0ea32841f89a23f630be524d98
Autor:
Eugenia Rojas-Agurto, María Jesús Leal-Witt, Carolina Arias, Juan Francisco Cabello, Daniel Bunout, Verónica Cornejo
Publikováno v:
Nutrients, Vol 15, Iss 13, p 2939 (2023)
There are concerns about muscle and bone health in patients with Phenylketonuria (PKU). Our aim was to compare muscle mass, function, and bone health among young adults with PKU who maintained or suspended dietary treatment. Methods: Three groups wer
Externí odkaz:
https://doaj.org/article/5de50192dd8c4fa8a057973bd140b905
Autor:
María Jesús Leal-Witt, Eugenia Rojas-Agurto, Manuel Muñoz-González, Felipe Peñaloza, Carolina Arias, Karen Fuenzalida, Daniel Bunout, Verónica Cornejo, Alejandro Acevedo
Publikováno v:
Metabolites, Vol 13, Iss 6, p 677 (2023)
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism where high phenylalanine (Phe) concentrations cause irreversible intellectual disability that can be prevented by newborn screening and early treatment. Evidence suggests that
Externí odkaz:
https://doaj.org/article/4a252882b94441aab5aed82581b5d07a
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:
Cornejo, Eugenia Rojas-Agurto, María Jesús Leal-Witt, Carolina Arias, Juan Francisco Cabello, Daniel Bunout, Verónica
Publikováno v:
Nutrients; Volume 15; Issue 13; Pages: 2939
There are concerns about muscle and bone health in patients with Phenylketonuria (PKU). Our aim was to compare muscle mass, function, and bone health among young adults with PKU who maintained or suspended dietary treatment. Methods: Three groups wer
Publikováno v:
Revista chilena de nutrición. 49:124-132
Publikováno v:
Revista chilena de nutrición v.48 n.4 2021
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
RESUMEN Introducción: El patrón de dieta nórdica (DN) se ha propuesto e implementado como otra alternativa saludable a la clásica dieta mediterránea, tanto para el diario vivir de la población como también para el control y tratamiento de las
Publikováno v:
Revista chilena de nutrición v.48 n.3 2021
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
RESUMEN El cáncer colorrectal (CCR) es una de las neoplasias más frecuentes y representa una de las principales causas de muerte por cáncer en todo el mundo. Existen fuertes evidencias que factores dietarios influyen en su incidencia. Los lácteos
Autor:
Ana Chiesa, Ana Rosa Colmenares, Aida Lemes, Ramsés Badilla Porras, Ceila Perez, Georgina María Zayas Torriente, José Fernando Sotillo-Lindo, Lourdes Ortiz Paranza, Antonieta Mahfoud, Manuel Saborío-Rocafort, Marcela Pereyra, Marco Morales, Bruna Bento dos Santos, Lilia Farret Refosco, María Jesús Leal-Witt, Sunling Palma Wong, Gabriela Castro, Soraia Poloni, Felipe Peñaloza, Verónica Cornejo, Norma Spécola, Laritza Martínez Rey, Marta Sanabria, Amanda Rocío Caro Naranjo, Ida Vanessa Doederlein Schwartz, Marcela Vela Amieva, María Florencia Salazar
Publikováno v:
Nutrients
Volume 13
Issue 8
Nutrients, Vol 13, Iss 2566, p 2566 (2021)
Volume 13
Issue 8
Nutrients, Vol 13, Iss 2566, 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
Autor:
Alf Valiente, María Florencia Salazar, Pilar Peredo, Carolina Arias, Juan Francisco Cabello, A. De la Parra, Felipe Peñaloza, Verónica Cornejo, Gabriela Castro, Valerie Hamilton, María Jesús Leal-Witt
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210003, Published: 11 JUN 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210003, Published: 11 JUN 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables ana