Zobrazeno 1 - 10
of 684
pro vyhledávání: '"X. Acosta"'
Autor:
Dafne D G Horovitz, Márcia G Ribeiro, Angelina X Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data from the Hunter Outco
Externí odkaz:
https://doaj.org/article/e02f6f4e3da94bc2bd2b6d7e0796fbd9
Autor:
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte, Domingos Alves, RARAS Network group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laborat
Externí odkaz:
https://doaj.org/article/90e2669b4e254982a0ad0a8cb9c03645
Autor:
Breno Lima de Almeida, Marta Giovanetti, João Vitor Oliveira, Tereza Cristina Xavier Carvalho, Eduardo Manoel Figueiredo, Rosana Pellegrini, Juan Ignacio Calcagno, Marcia Weber Carneiro, Juliana M.G.C. de Oliveira, Adriana Virgínia Barros Faiçal, Iluska Andrade Agra, Cristina Salles, Emília Katiane Embiruçu de Araújo Leão, Rita Lucena, Angelina X. Acosta, Luiz Carlos Junior Alcantara, Isadora Cristina de Siqueira
Publikováno v:
International Journal of Infectious Diseases, Vol 114, Iss , Pp 128-131 (2022)
ABSTRACT: Fourteen asymptomatic normocephalic newborns with confirmed congenital Zika infection were investigated. All newborns presented Zika virus (ZIKV) positivity on reverse transcriptase polymerase chain reaction. Following ZIKV-specific NS5 gen
Externí odkaz:
https://doaj.org/article/63d6607ad24b45ab8d9bec12ed47bc0f
Autor:
Williams, Leon F.
Publikováno v:
Social Work, 1984 May 01. 29(3), 306-307.
Externí odkaz:
https://www.jstor.org/stable/23714296
Autor:
Mirela F.A. Andrade, Isabel Cristina B. Guimarães, Angelina X. Acosta, Emília Katiane E.A. Leão, Moisés I.G. Moreira, Carlos Maurício C. Mendes
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 95, Iss 4, Pp 475-481 (2019)
Objective: Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common feature. Cardiac signs and symptoms are underestimated due to the disease involveme
Externí odkaz:
https://doaj.org/article/29039b1c4c394c75bc2221b3a9cfa3ee
Autor:
J. R. M. Ceroni, R. L. Dutra, R. S. Honjo, J. C. Llerena, A. X. Acosta, P. F. V. Medeiros, M. F. Galera, É. A. Zanardo, F. B. Piazzon, A. T. Dias, G. M. Novo-Filho, M. M. Montenegro, F. A. R. Madia, D. R. Bertola, J. B. de Melo, L. D. Kulikowski, C. A. Kim
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics center
Externí odkaz:
https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df
Autor:
Fortin, J.N.
Publikováno v:
Transcultural Psychiatry; December 1981, Vol. 18 Issue: 4 p292-294, 3p
Autor:
J.N. Fortin
Publikováno v:
Transcultural Psychiatric Research Review. 18:292-294
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a86564ab00894d3fe4eb6402043ada19
https://doi.org/10.1177/136346158101800414
https://doi.org/10.1177/136346158101800414
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 17, Iss 6, Pp 1053-1056 (2013)
Objectives: This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth. Materials and Methods: Retrospective, descriptive, cross-sectional study conducted from Ja
Externí odkaz:
https://doaj.org/article/6493b1d3296640aa98927d625b9803a1
Autor:
Alessandro de M. Almeida, Tiana M. Godinho, Marcelo S. Teles, Ana Paula P. Rehem, Helena M. Jalil, Thiago G. Fukuda, Ênio P. Araújo, Eduardo C. Matos, Darcy C. Muritiba Júnior, Camila P. F. Dias, Helena M. Pimentel, Maria Inês M. M. Fontes, Angelina X. Acosta
Publikováno v:
Revista Brasileira de Saúde Materno Infantil, Vol 6, Iss 1, Pp 85-91 (2006)
OBJETIVOS: descrever e avaliar o perfil do Programa de Triagem Neonatal baiano em 2003. MÉTODOS: estudo descritivo baseado no banco de dados do Serviço de Referência de Triagem Neonatal baiano com todos os recém-nascidos que realizaram a triagem
Externí odkaz:
https://doaj.org/article/abe1b0e2100a40b9b9c3e57a9aded8b3