Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Norma Roa"'
Autor:
Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay
Externí odkaz:
https://doaj.org/article/d89a7021f0ca4a39934950bfb31e039c
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads
Externí odkaz:
https://doaj.org/article/4ff5d8c0db0a4cf5b1b6cb209421235c
Autor:
Romina Ceci, Norma Roa, Carolina Yvorra, Mariela Bonnano, Fernanda Rodriguez, Paula Rozenfeld, Francisca Masllorens
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
Background: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1849177e231ab2621526c86d56e518b2
Wiley Online Library
Wiley Online Library
Autor:
Guillermo Cáceres, Isaac Kisinovsky, Ricardo Reisin, Pablo Martínez, Norma Roa, Cintia Marchesoni, Pablo Neumann, Silvia Bianchi, Ana Lía Tarabuso, Ana Pardal
Publikováno v:
The Journal of Pediatrics. 156:828-831
Objective To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis. Study design We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by
Autor:
Claudio Heraldo Díaz Larenas, Teresa Patricia Martínez Ilabaca, Iris Norma Roa Ghiselini, María Gabriela Sanhueza Jara
Publikováno v:
Revista de Educación de la Universidad de Granada, Vol 22, Iss 1, Pp 27-43 (2009)
This paper identifies the EFL teaching and learning models underlying a group of ten student-teachers’ discourse who are doing their teaching internship in different schools in Concepción, Chile. These students are about to obtain their degree as
Autor:
Andrea Castillo, Norma Roas
Publikováno v:
Brazilian Journal of Radiation Sciences, Vol 10, Iss 2A (2022)
This study presents the results of the verification of the method according to working procedures of the Laboratory of External Dosimetry (LDE) located at the Laboratory of Radiation Physics and Metrology (LAF-RAM), which is the only Individual Monit
Externí odkaz:
https://doaj.org/article/d9182c5c919a48aa8f55b7d3cf4c133e
Publikováno v:
Brazilian Journal of Radiation Sciences, Vol 10, Iss 2A (2022)
The values of environmental equivalent dose H*(10) using thermoluminescent dosimeters (TLD) in the Radiation Physics and Metrology Laboratory (LAF-RAM) from 2019 to 2021 are presented. Fifteen measuring points are monitored on a total of 23 monitorin
Externí odkaz:
https://doaj.org/article/765dcc6976cc4f94a6e697cc9dead034