Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rodolfo Bareiro"'
Autor:
Francisca Jaquez, Flávia Gameleira, Maira Graeff Burin, Joany Ramirez, Ceila Perez de Ferrán, Maria L. Castro Moreira, Ana Carolina Brusius-Facchin, Martha L. Solano Villareal, Simone Silva dos Santos Lopes, Kiyoko Abe Sandes, Hector P. Quintero Montano, Gladys Cossio, Heidy M. Barroso Sandoval, Francyne Kubaski, Kristiane Michelin-Tirelli, Paula F.V. de Medeiros, Sandra Leistner-Segal, Roberto Giugliani, Rodolfo Bareiro, Angelina Xavier Acosta
Publikováno v:
Molecular Genetics and Metabolism. 126:S87-S88
The mucopolysaccharidoses (MPS) include 11 rare disorders caused by deficiency of specific lysosomal enzymes resulting in the accumulation of undegraded glycosaminoglycans (GAGs) and several clinical consequences. The combined incidence for all MPS s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a73a1d8e7d0430cdb4ed595607a9161
https://doi.org/10.1016/j.ymgme.2018.12.216
https://doi.org/10.1016/j.ymgme.2018.12.216
Autor:
Hector P. Quintero Montano, Maria L. Castro Moreira, Heidy M. Barroso Sandoval, Roberto Giugliani, Rodolfo Bareiro, Franciele Barbosa Trapp, Francyne Kubaski, Martha L. Solano Villareal
Publikováno v:
Molecular Genetics and Metabolism. 126:S88
The mucopolysacharidoses (MPS) have a wide spectrum of clinical manifestations. Taking this into consideration and exploring the benefits of noninvasive phenotypic characterization using frontal pictures, we decided to test if a tool for facial recog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86c79672fffb538ba3c39828fa94d596
https://doi.org/10.1016/j.ymgme.2018.12.217
https://doi.org/10.1016/j.ymgme.2018.12.217
Autor:
Francyne Kubaski, Maria L. Castro Moreira, Catarina Pereira, Roberto Giugliani, Rodolfo Bareiro
Publikováno v:
Molecular Genetics and Metabolism. 126:S102
Mucopolysaccharidosis type II (MPS II) is caused by deficiency of Iduronate-2-sulfatase (IDS) that leads to accumulation of undegraded glycosaminoglycans. So far, over 630 mutations have been described for the IDS gene in the Human Gene mutation data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6dbe1d7db4846540eee1eee610dfff55
https://doi.org/10.1016/j.ymgme.2018.12.256
https://doi.org/10.1016/j.ymgme.2018.12.256