Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Norberto, Antongiovanni"'
Publikováno v:
Revista de Nefrología, Diálisis y Trasplante, Vol 39, Iss 2, Pp 101-107 (2019)
Introduction: Vascular events (VE), both cardiovascular (CVD) and cerebrovascular (CVA), are the main cause of death in patients with Fabry disease (FD). The aim of this study was to describe the occurrence of VE in patients with FD and end-stage ren
Externí odkaz:
https://doaj.org/article/f72d2ee27ca74b28827dd473ec73df74
Publikováno v:
Nefrología, Vol 39, Iss 3, Pp 294-300 (2019)
Resumen: Antecedentes: La detección temprana de la nefropatía por enfermedad de Fabry es de interés, pues su tratamiento es más eficaz en estadios precoces. Ha sido estudiada por biomarcadores moleculares y tisulares, pero estos poseen desventaja
Externí odkaz:
https://doaj.org/article/59f758144cac40c78b95b9865baf5674
Publikováno v:
Nefrología (English Edition), Vol 39, Iss 3, Pp 294-300 (2019)
Background: The early detection of Fabry nephropathy is of interest to us. Its treatment is more effective in early stages. It has been studied by analysing molecular and tissue biomarkers. These have certain disadvantages that hinder its routine use
Externí odkaz:
https://doaj.org/article/8408a6ddc522405d978d5ec85f7b8f94
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 41-43 (2017)
Nephropathy is one of the major complications of Fabry Disease (FD) and mainly includes reduced glomerular filtration rate (GFR) and proteinuria. Despite the frequency, scarce information exists regarding the frequency of CKD as well as other related
Externí odkaz:
https://doaj.org/article/bc21c1a627b94c389849baa6dfdadc4c
Publikováno v:
The Scientific World Journal, Vol 2018 (2018)
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromoso
Externí odkaz:
https://doaj.org/article/f290f207553f403aa678259130159bce
Publikováno v:
Case Reports in Nephrology, Vol 2017 (2017)
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in
Externí odkaz:
https://doaj.org/article/ce849b4020fe4d738d8db97ffb949ad4
Autor:
Juan Manuel Politei, Andrea B. Schenone, Norberto Antongiovanni, Ana María Cusumano, Gustavo Cabrera, Marina Szlago
Publikováno v:
Revista de Nefrología, Diálisis y Trasplante, Vol 34, Iss 2, Pp 82-86 (2014)
Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological accumulation of glycosphingolipids mainly in the endothelial cells, vascular smooth muscle cells and podocytes among
Externí odkaz:
https://doaj.org/article/2174a3c8a8a749cf8c34d11a3a9ecf76
Autor:
Dana Velasquez Rivas, Lucas N. Silvestroff, Miriam Aguilar, Paula Ortiz, Norberto Antongiovanni, Juan Politei
Publikováno v:
Molecular Genetics and Metabolism. 138:107345
Publikováno v:
Nefrología, Vol 39, Iss 3, Pp 294-300 (2019)
Resumen: Antecedentes: La detección temprana de la nefropatía por enfermedad de Fabry es de interés, pues su tratamiento es más eficaz en estadios precoces. Ha sido estudiada por biomarcadores moleculares y tisulares, pero estos poseen desventaja