Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hernán Amar"'
Publikováno v:
Revista Educação Especial, Vol 28, Iss 53, Pp 557-568 (2015)
This article describes and analyzes in a first movement, some problematizations on relations between "Education and Social Inclusion" enunciated by the Education for All, coordinated by UNESCO. In the second movement, we argue that the production of
Externí odkaz:
https://doaj.org/article/50c50fb9c9644a998865ba90a6bfcf05
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation o
Externí odkaz:
https://doaj.org/article/07788539a8b74b2fa1444bee0867e560
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressi
Externí odkaz:
https://doaj.org/article/4b4cdd98c75840e4a9c116d9983d5417
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 65-68 (2017)
Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cer
Externí odkaz:
https://doaj.org/article/f863207023d94085a371afd813e749ed
Autor:
Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0191228 (2018)
Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnost
Externí odkaz:
https://doaj.org/article/6b7ee051c8d94e7daba872bf5c32bc61
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