Zobrazeno 1 - 10
of 355
pro vyhledávání: '"Marcial Francis Galera"'
Autor:
Roseli Divino Costa, Maria de Fátima de Carvalho Ferreira, Thaís de Almeida Rocha, Marcial Francis Galera
Publikováno v:
Revista Paulista de Pediatria, Vol 42 (2023)
ABSTRACT Objective: To evaluate quality indicators of the Neonatal Screening Referral Service of the state of Mato Grosso (NSRS-MT) from 2005 to 2019. Methods: Cross-sectional, retrospective, exploratory, descriptive, and observational study from 200
Externí odkaz:
https://doaj.org/article/a5c44ff308df430f89f91ce94bb357a1
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:
Roseli Divino Costa, Bianca Borsatto Galera, Bianca Costa Rezende, Amanda Cristina Venâncio, Marcial Francis Galera
Publikováno v:
Revista Paulista de Pediatria, Vol 38 (2020)
ABSTRACT Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consi
Externí odkaz:
https://doaj.org/article/e7a305eccd9c4399bc65a099511df095
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed n
Externí odkaz:
https://doaj.org/article/52847765c48746a5800b7f65d880720c
Autor:
Gleice Cristina dos Santos Godoy, Bianca Borsatto Galera, Claudinéia Araujo, Jacklyne Silva Barbosa, Max Fernando de Pinho, Marcial Francis Galera, Sebastião Freitas de Medeiros
Publikováno v:
Clinical Medicine Insights: Reproductive Health, Vol 2014, Iss 8, Pp 51-57 (2014)
Externí odkaz:
https://doaj.org/article/aed6b2b7df34442ea404403a0d8c8ff8
Publikováno v:
Revista Brasileira de Epidemiologia, Vol 14, Iss 2, Pp 347-356 (2011)
OBJETIVO: Estimar a prevalência de escoliose idiopática e variáveis associadas em escolares do ensino público fundamental. MÉTODOS: Estudo de corte transversal em duas fases, sendo a primeira nas salas de aula, com teste de Adams. Os que apresen
Externí odkaz:
https://doaj.org/article/d0e2178ae2444ffe9e48c957ba286078
Autor:
Claudinéia de Araújo, Bianca Borsatto Galera, Marcial Francis Galera, Sebastião Freitas de Medeiros
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 32, Iss 8, Pp 381-385 (2010)
OBJETIVO: examinar a associação entre características citogenéticas e alterações clínicas em pacientes com síndrome de Turner (ST). MÉTODOS: Foram incluídas 42 pacientes. Os dados clínicos foram colhidos e registrados em formulário padron
Externí odkaz:
https://doaj.org/article/3a7e3f694a424f309107b793caf0e8ab
Autor:
Anderson Kuntz Grzesiuk, Sueli Mieko Oba Shinjo, Roseli da Silva, Marcela Machado, Marcial Francis Galera, Suely Kazue Nagahashi Marie
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 68, Iss 2, Pp 194-197 (2010)
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this
Externí odkaz:
https://doaj.org/article/00c974a97cfb4bf78fa8a8844473f62f
Autor:
Cristhiane Almeida Leite, Marcial Francis Galera, Mariano Martínez Espinosa, Paulo Ricardo Teles de Lima, Vander Fernandes, Álvaro Henrique Borges, Eliane Pedra Dias
Publikováno v:
International Journal of Rheumatology, Vol 2015 (2015)
Background. Systemic lupus erythematosus (SLE) is a chronic inflammatory, multisystem, and autoimmune disease. Objective. The aim of this study was to describe the prevalence of hyposalivation in SLE patients and evaluate factors associated. Methods.
Externí odkaz:
https://doaj.org/article/9ba68342135441c2be47427ab4ab31c5
Autor:
Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e34195 (2012)
UNLABELLED: In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of ge
Externí odkaz:
https://doaj.org/article/6131b6a8b642486cab34a84b4026aa0f