Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Luiz C. Santana da Silva"'
Autor:
Gustavo M. Viana, Nathália O. de Lima, Rosely Cavaleiro, Erik Alves, Isabel C.N. Souza, Raimunda Feio, Sandra Leistner-Segal, Ida Schwartz, Roberto Giugliani, Luiz C. Santana da Silva
Publikováno v:
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 410-415 (2011)
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary ex
Externí odkaz:
https://doaj.org/article/fda889ee6c81479cb843f2b9cacce177
Autor:
Pedro E. Bonfim‐Freitas, Roseani S. Andrade, Ândrea K. Ribeiro‐dos‐Santos, Luiz C. Santana‐da Silva
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, b
Externí odkaz:
https://doaj.org/article/932e5a90d8144ddcbb6d0b28e8915bae
Autor:
Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Sou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::a65ab0b98c9523024075e22d8788da90
https://doaj.org/article/8f5b2a71a5294f6ab3e01d69f4619060
https://doaj.org/article/8f5b2a71a5294f6ab3e01d69f4619060
Autor:
Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz
Publikováno v:
Jornal de Pediatria, Vol 87, Iss 3, Pp 245-251 (2011)
OBJETIVO: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de fenilalanina-hidroxilase (HPA-PAH). MÉTODOS: Estudo intervencional, amostragem por conve
Externí odkaz:
https://doaj.org/article/438c88bc962b430e9d54d60d1499bb84