Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

Autor: Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, Bitencourt, Fernanda Hendges de, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein

Publikováno v: In Jornal de Pediatria (Versão em Português) November-December 2020 96(6):710-716

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Autor: Jacques, Carlos Eduardo Diaz, Donida, Bruna, Mescka, Caroline P., Rodrigues, Daiane G.B., Marchetti, Desirèe P., Bitencourt, Fernanda H., Burin, Maira G., de Souza, Carolina F.M., Giugliani, Roberto, Vargas, Carmen Regla

Publikováno v: In BBA - Molecular Basis of Disease September 2016 1862(9):1608-1616

Fabry disease: A new approach for the screening of females in high-risk groups

Autor: Pasqualim, Gabriela, Simon, Laura, Sperb-Ludwig, Fernanda, Burin, Maira Graef, Michelin-Tirelli, Kristiane, Giugliani, Roberto, Matte, Ursula

Publikováno v: In Clinical Biochemistry May 2014 47(7-8):657-662

Investigação de erros inatos do metabolismo

Autor: Wajner, Moacir, R. Vargas, Carmen, Burin, Maira, Giugliani, Roberto, C. Coelho, Janice

Publikováno v: Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA
Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Inborn errors of metabolism are inherited metabolic disorders individually rare, but, taken together, their overall frequence is about 1 case out of 1000 newborns. The present study aimed to describe the main clinical features, as well as the general

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::93d7b861bec93bdafe1679919b578bfa
https://seer.ufrgs.br/index.php/hcpa/article/view/126038

Diagnóstico pré-natal: avanços e perspectivas

Autor: Vieira Sanseverino, Maria Teresa, G. Kessler, Rejane, G. Burin, Maira, R. Stein, Nina, F. Herman, Rafaela, Matte, Ursula, M. M. Barrios, Patrícia, A. Magalhães, José

Publikováno v: Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA
Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

OBJECTIVE: The development of laboratorial techniques for the prenatal diagnosis of genetic diseases was a great step for clinical genetics, changing reproductive perspectives of high risk families. At Hospital de Clínicas de Porto Alegre (HCPA), th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fb14e9002144185b3a44fa5c56f53539
https://seer.ufrgs.br/index.php/hcpa/article/view/126030