Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Carolina F.M. Souza"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Mucopolysaccharidoses (MPS) are rare inborn errors of metabolism, leading to the accumulation of glycosaminoglycans (GAG) in distinct tissues. We investigated oropharyngeal dysphagia using the videofluoroscopic swallowing study (VFSS) in pat
Externí odkaz:
https://doaj.org/article/507003631b944d79a3b7c1540e1b7db6
Autor:
Carolina F.M. Souza, Ana Cecília Siqueira, Natália S. Antunes, Dafne D.G. Horovitz, Juan Politei, Charles M. Lourenço, Maria Juliana Rodovalho Doriqui, Débora Lima Souza, Marcial Francis Galera, Leonardo Cury Abrahão, Marcos Almeida Matos, Pedro Henrique Barros Mendes, Tatiana S.P.C Magalhães
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI)
Externí odkaz:
https://doaj.org/article/7d426cec223043d6931f9a3b1b6d1bed
Autor:
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcom
Externí odkaz:
https://doaj.org/article/a2fe1b980788428984281a4eabc80911
Autor:
Carolina F.M Souza, Ida V. D. Schwartz, Sílvia P. Ruschel, Ana Cristina Puga, Alexandre M. Reis, Fabrício S. Costa, Ricardo P. Dias, Renato Z. Flores, Lavínia Schuler
Publikováno v:
Revista Brasileira de Educação Médica, Vol 20, Iss 2-3, Pp 33-40 (2021)
Resumo Considerando a genética como uma área de rápido avanço nas áreas biomédicas e de inclusão recente como disciplina nos currículos das faculdades de medicina, procura-se verificar o grau e o tipo de conhecimento por parte dos alunos de m
Externí odkaz:
https://doaj.org/article/eb5662983b0c4878a2cf9c59e6731144