Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Martha L. Solano Villareal"'
Autor:
Tatiana Sá Pacheco Carneiro Magalhães, Edna Tiemi Sakata, Chong Ae Kim, Ana Paula Damiano, Martha L. Solano Villareal, Dafne Dain Gandelman Horovitz, Alejandro Fainboim, Roberto Giugliani
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening v.7 2019
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20190004, Published: 15 JUL 2019
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20190004, Published: 15 JUL 2019
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
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 quality o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aba13899aca74baa994288042ccde15
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100305
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100305
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