Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Aída Lemes"'
Autor:
Roberto Giugliani, Martha Luz Solano Villarreal, C. Araceli Arellano Valdez, Antonieta Mahfoud Hawilou, Norberto Guelbert, Luz Norela Correa Garzón, Ana Maria Martins, Angelina Acosta, Juan Francisco Cabello, Aída Lemes, Mara Lucia Schmitz Ferreira Santos, Hernán Amartino
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 2, Pp 315-329 (2014)
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndr
Externí odkaz:
https://doaj.org/article/0c0357e3d80843119c0cf0e300abfb51
Autor:
Aída Lemes, Berta Murieda, Raúl Gabus, María Jesús Roselli, Mariela Larrandaburu, Alicia Vaglio
Publikováno v:
Revista Médica del Uruguay, Vol 22, Iss 1 (2006)
La enfermedad de Gaucher tipo I es una afección de herencia autosómica recesiva determinada por deficiencia de actividad de la enzima b-glucosidasa ácida y acúmulo progresivo de glicosilceramida en los lisosomas de células macrofágicas. No tien
Externí odkaz:
https://doaj.org/article/e0b539e3822a41298e0029fac65a6a52
Publikováno v:
Revista Médica del Uruguay, Vol 20, Iss 3 (2004)
Presentamos el primer caso nacional de un niño portador de una aciduria glutárica tipo I. Esta afección es un error congénito del metabolismo de los aminoácidos esenciales lisina y triptofano determinado por la deficiencia de la enzima mitocondr
Externí odkaz:
https://doaj.org/article/6262f384ecd043b8aada33a3abb66206
Publikováno v:
Revista Médica del Uruguay, Vol 20, Iss 1 (2004)
La detección neonatal de errores congénitos del metabolismo mediante pesquisa neonatal consiste en la búsqueda sistemática en el recién nacido de aquellas afecciones para las que existe un tratamiento probadamente efectivo ante su instalación p
Externí odkaz:
https://doaj.org/article/287f44ff886948db842fdd8442af1386
Autor:
Hugo Naya, Laureana De Brun, Jennyfer Martínez, Martín Graña, Cecilia Acosta, Martina Alonso, Alfredo Cerisola, Gabriela Rivas, Lucía Spangenberg, Celia Quijano, Santiago Mansilla, R. Puentes, Daniela Lens, Aída Lemes, Laura Castro, Víctor Raggio, Cristina Zabala, Mariela Garau
Publikováno v:
Mitochondrion. 61:31-43
Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in mult
Publikováno v:
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: e20210008, Published: 14 JUN 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 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: e20210008, Published: 14 JUN 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect o
Autor:
Ursula da Silveira Matte, Márcia Gonçalves Ribeiro, Aída Lemes, Andrea Schenone, G.G.G. da Fonseca, R. Giugliani, Gabriela Pasqualim, Marina Szlago, M.V.M. Rojas
Publikováno v:
Clinical Genetics. 88:376-380
Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency of α-l-iduronidase (IDUA) which leads to a wide spectrum of clinical severity. Here, we describe the case of four male patients who present the previously undes
Autor:
Mara Lucia Schmitz Ferreira Santos, Roberto Giugliani, Luz Norela Correa Garzón, Ana Maria Martins, C. Araceli Arellano Valdez, Hernan Amartino, Norberto Guelbert, Juan Francisco Cabello, Aída Lemes, Martha Solano Villarreal, Angelina Xavier Acosta, Antonieta Mahfoud Hawilou
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 2, Pp 315-329 (2014)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology
Genetics and Molecular Biology v.37 n.2 2014
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 37, Issue: 2, Pages: 315-329, Published: JUN 2014
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology
Genetics and Molecular Biology v.37 n.2 2014
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 37, Issue: 2, Pages: 315-329, Published: JUN 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndr
Autor:
Rosario Gueçaimburú, Lucía Spangenberg, Aída Lemes, Carlos Robello, Valeria Fraga, Víctor Raggio, María Boidi, Karina Krysztal, José Antonio Sánchez-Alcázar, Juan M. Suárez-Rivero, Martín Graña, Hugo Naya, Gonzalo Greif, Alfredo Cerisola, Alejandra Tapié
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
et al.
Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Us
Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Us
Autor:
Alicia Vaglio, William R. Wilcox, Denise Salazar, Soraya Reyno, Aída Lemes, Ralph S. Lachman, Roberto Quadrelli
Publikováno v:
American Journal of Medical Genetics. 95:247-265
We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes