Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Marcela Pereyra"'
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:
Hernán, Eiroa, Consuelo, Durand, Marina, Szlago, Marcela, Pereyra, Mariana, Nuñez, Norberto, Guelbert, Gabriela, Pacheco, Soledad, Kleppe
Publikováno v:
Archivos argentinos de pediatria.
Hyperammonemia is a medical emergency. There are no publications regarding the availability of resources, supplies, and knowledge necessary for the initial management of hyperammonemia by pediatricians in Argentina; however, according to the authors'
Publikováno v:
Archivos Argentinos de Pediatria. 119
Urea cycle defects are inborn errors of metabolism produced by a defect in one of the enzymes responsible for the detoxification of ammonia, which generates its accumulation in the body. The clinical manifestations can present early, with high morbid
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:
Graciela Zuccaro, Hernán Eiroa, Hernan Amartino, Mariana Cazalas, Claudia Arberas, Adriana Berretta, Claudio A S Parisi, Guillermo Drelichman, Marcela Pereyra, Carmen De Cunto, Luisa Bay, Adriana Copiz, Alberto Maffey, Hugo Botto, Alejandro Fainboim, Virginia Fano, Graciela Espada, Andrea Schenone, Norberto Guelber, Alejandra Antacle, Rodrigo Remondino, Raquel Staciuk, Norma Spécola
Publikováno v:
Archivos Argentinos de Pediatria. 119
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to c
Autor:
Hernán Eiroa, Hugo Botto, Alberto Maffey, Carmen De Cunto, Raquel Staciuk, Mariana Cazalas, Graciela Espada, Claudia Arberas, Adriana Copiz, Andrea Schenone, Rodrigo Remondino, Rorberto Guelber, Graciela Zuccaro, Norma Spécola, Alejandro Fainboim, Virginia Fano, Claudio A S Parisi, Marcela Pereyra, Alejandra Antacle, Guillermo Drelichman, Hernan Amartino, Adriana Berretta, Luisa Bay
Publikováno v:
Archivos Argentinos de Pediatria. 119
Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, s
Autor:
C. G. Asteggiano, María Fernanda Peralta, Nydia Beatriz Azar, Niels Suldrup Suldrup, María Beatriz Bistué Millón, Raquel Dodelson de Kremer, Norberto Guelbert, Marcela Pereyra, N. Specola, Magali Papazoglu
Publikováno v:
Pediatric Research. 84:837-841
Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. We studied 554 patients (2007–2017) with a clinical p
Autor:
Belén Pérez, Marisa Cubilla, Gabriela Magali Papazoglu, Raquel Dodelson de Kremer, Luisa Sturiale, Marcela Pereyra, C. G. Asteggiano
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Glycoconjugate journal 38 (2021): 191–200. doi:10.1007/s10719-021-09976-w
info:cnr-pdr/source/autori:Magali Papazoglu, Gabriela; Cubilla, Marisa; Pereyra, Marcela; de Kremer, Raquel Dodelson; Perez, Belen; Sturiale, Luisa; Gabriela Asteggiano, Carla/titolo:Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis/doi:10.1007%2Fs10719-021-09976-w/rivista:Glycoconjugate journal/anno:2021/pagina_da:191/pagina_a:200/intervallo_pagine:191–200/volume:38
instname
Glycoconjugate journal 38 (2021): 191–200. doi:10.1007/s10719-021-09976-w
info:cnr-pdr/source/autori:Magali Papazoglu, Gabriela; Cubilla, Marisa; Pereyra, Marcela; de Kremer, Raquel Dodelson; Perez, Belen; Sturiale, Luisa; Gabriela Asteggiano, Carla/titolo:Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis/doi:10.1007%2Fs10719-021-09976-w/rivista:Glycoconjugate journal/anno:2021/pagina_da:191/pagina_a:200/intervallo_pagine:191–200/volume:38
Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. Up to date, nine ALG2-CDG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2a12e4940390ea4dac64c29ac72bb5
http://hdl.handle.net/10261/266445
http://hdl.handle.net/10261/266445
Autor:
Luisa, Bay, Hernán, Amartino, Alejandra, Antacle, Claudia, Arberas, Adriana, Berretta, Hugo, Botto, Mariana, Cazalas, Adriana, Copiz, Carmen, De Cunto, Guillermo, Drelichman, Graciela, Espada, Hernán, Eiroa, Alejandro, Fainboim, Virginia, Fano, Norberto, Guelber, Alberto, Maffey, Claudio, Parisi, Marcela, Pereyra, Rodrigo, Remondino, Andrea, Schenone, Norma, Spécola, Raquel, Staciuk, Graciela, Zuccaro
Publikováno v:
Archivos argentinos de pediatria. 119(3)
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to c
Autor:
Gabriela Magali, Papazoglu, Marisa, Cubilla, Marcela, Pereyra, Raquel Dodelson, de Kremer, Belén, Pérez, Luisa, Sturiale, Carla Gabriela, Asteggiano
Publikováno v:
Glycoconjugate journal. 38(2)
Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. Up to date, nine ALG2-CDG