Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Laritza Martínez Rey"'
Autor:
Alina Concepción Álvarez, Ivette Camayd Viera, Norma Elena de León Ojeda, Alina García García, Laritza Martínez Rey, Daniel Quintana Hernández
Publikováno v:
Revista Finlay, Vol 10, Iss 1, Pp 41-45 (2020)
Foundation: methylmalonic aciduria is one of the most frequent organic acidurias and groups together a set of genetic defects, characterized by the excretion of elevated levels of urinemethyl malonic acid. The excretion of this metabolite may or may
Externí odkaz:
https://doaj.org/article/84735761c6834eb1aa5125753abadb0c
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Mucopolysaccharidosis III (MPSIII) or Sanfilippo syndrome is an autosomal recessive disorder of lysosomal metabolism. MPS III is caused by mutations in genes that encode for the enzymes involved in the degradation of heparan sulfate. It is c
Externí odkaz:
https://doaj.org/article/37af7833bf5643b5906c0ec55340dea0
Autor:
Tatiana Acosta Sánchez, Gretel Riverón Forment, Lilia Caridad Marín Padrón, Yaisa Castillo Casañas, Laritza Martínez Rey
Publikováno v:
Medisan, Vol 23, Iss 4, Pp 595-606 (2019)
Introducción: Las mucopolisacaridosis son causadas por la deficiencia de las actividades de las enzimas lisosomales necesarias para degradar los glicosaminoglicanos. Estos síndromes comparten muchas características clínicas aunque en grados varia
Externí odkaz:
https://doaj.org/article/8aa8741d47304d548c430d96b1c795fa
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
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: e20210013, Published: 09 AUG 2021
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021
Mucopolysaccharidosis III (MPSIII) or Sanfilippo syndrome is an autosomal recessive disorder of lysosomal metabolism. MPS III is caused by mutations in genes that encode for the enzymes involved in the degradation of heparan sulfate. It is classified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223eb
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=en
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95a2e262c7661b4f4e6c20383ac217f
Autor:
David Padrón Aurelio, Jiovanna Contreras Roura, Laritza Martínez-Rey, Zoe Robaina, JC González-Gómez, E Pérez García, Ivette Camayd Viera
Publikováno v:
International Journal of Rare Diseases and Disorders. 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::547bac99de2d4ccd088b11fd90d94ade
https://doi.org/10.23937/ijrdd-2017/1710002
https://doi.org/10.23937/ijrdd-2017/1710002
Autor:
Laritza Martínez-Rey, Víctor Tamayo-Chang, Águeda N Pereira-Pérez, Zoe Robaina-Jiménez, Enna Gutiérrez-García, Bárbara Barrios-García
Publikováno v:
REVISTA BIOMÉDICA. 17:3-9
Introducción. En mujeres heterocigóticas para el gen fenilalanina hidroxilasa, ante una sobrecarga dietética durante el embarazo, se pueden encontrar cifras elevadas de fenilalanina que pueden conducir a diversos trastornos en el desarrollo fetal,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55e5fc2d6c78da6d946d9189dd389f3c
https://doi.org/10.32776/revbiomed.v17i1.433
https://doi.org/10.32776/revbiomed.v17i1.433
Autor:
Poloni, Soraia, dos Santos, Bruna Bento, Chiesa, Ana, Specola, Norma, Pereyra, Marcela, Saborío-Rocafort, Manuel, Salazar, María Florencia, Leal-Witt, María Jesús, Castro, Gabriela, Peñaloza, Felipe, Wong, Sunling Palma, Porras, Ramsés Badilla, Paranza, Lourdes Ortiz, Sanabria, Marta Cristina, Amieva, Marcela Vela, Morales, Marco, Naranjo, Amanda Rocío Caro, Mahfoud, Antonieta, Colmenares, Ana Rosa, Lemes, Aida
Publikováno v:
Nutrients; Aug2021, Vol. 13 Issue 8, p2566, 1p