Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Alejandro Fainboim"'
Autor:
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)
Abstract Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase. MPS IVA patients usually
Externí odkaz:
https://doaj.org/article/f0fb260f41ed4795bd194a39e13c55a0
Autor:
Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types
Externí odkaz:
https://doaj.org/article/39510fa3b7144e4abecda9ad2130fbf7
Autor:
Juan Manuel Politei, Hugo Abensur, Norberto Antongiovanni, Diego Bar, Luis Barros, Joseph Brooks, Gustavo Cabrera, Kenneth Carazo, Alberto Ciceran, Wilfredo Cortés, Sonia De Maio, Juan Díaz Salvia, Karen Dublán García, Consuelo Durand, Víctor Espín, Alejandro Fainboim, Adrián Fernández, Sergio Figueroa, Macarena Franco, Griselda Gómez, Michel Gurdet, Ricardo Heguilén, Javier Ibarra, Sebastián Jaurretche, Georgina Loyola Rodríguez, Paula Luna, Ana Martins, Fernando Molt, Sandra Moraga Nuñez, Giselle Myer, Juana Navarrete, Juan Pérez García, Luis Pineda Galindo, Carla Postigo, Juan Prieto, Diego Ripeau, Gabriela Salas Pérez, Azucena Sánchez, Hargoon Santami, Andrea Schenone, Graciela Serebrinsky, Fátima Sierra, José Sobral, Lura Titievsky, Hernán Trimarchi, Guillermo Valadez, Carmen Varas Mundaca, Víctor Velazcor, Valeria Veloso, Jacobo Villalobos Jacobo
Publikováno v:
Revista de Nefrología, Diálisis y Trasplante, Vol 37, Iss 1, Pp 21-28 (2017)
Introduction: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. Objetive: To provide the first guideline on the best time to start enzyme replacement therapy to trea
Externí odkaz:
https://doaj.org/article/64cb5f483e6146c5828da9ad6804f53e
Autor:
Roberto Giugliani, Alejandro Fainboim, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Edna Tiemi Sakata, Ana Paula Damiano, Tatiana Sá Pacheco Carneiro Magalhães, Martha Solano Villareal
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in
Externí odkaz:
https://doaj.org/article/b757dc0f0d074a4f9ff26605fef66175
Autor:
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0124987 (2015)
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsM
Externí odkaz:
https://doaj.org/article/d2e2eaf3e691443aac855665f5d88ee5
Autor:
Gloria Liliana Porras-Hurtado, Norberto Guelbert, Juan Politei, Dafne Dain Gandelman Horovitz, Alejandro Fainboim, José María Satizábal
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)
JIMD Reports
JIMD Reports
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase. MPS IVA patients usually present
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:
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:
Marcelo Baran, Eric Wallace, Hernán Trimarchi, Diego Ripeau, Miguel Liern, Silvia Di Pietrantonio, María Nieves Arán, Fernanda Toniolo, Fernando Gomez Pizarro, Norberto Antongiovanni, Gustavo Cabrera, Oscar Amoreo, Consuelo Durand, Joaquin Frabasil, Valeria Alberton, Fernando Perretta, Alejandro Fainboim, Juan Politei, Roberto Iotti, Andrea Schenone, Dana Velasques Rivas
Publikováno v:
Pediatric Nephrology. 33:2095-2101
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease. A retrospective analy