Zobrazeno 1 - 10
of 69
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
Publikováno v:
Iheringia: Série Zoologia, Vol 106, Iss 0
RESÚMEN Este trabajo se realizó bajo la hipótesis de que existe una pérdida creciente de diversidad en las comunidades de tardígrados, desde las áreas rurales hacia las urbanas, incrementando la homogenización de sus comunidades producto de la
Externí odkaz:
https://doaj.org/article/7cc3aa6fbc684bfd91d1d547fdb06fcf
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, 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/2f6ffeaa3f1f4a3498bb5d63d0fdb69b
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:
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, Marcos Guimarães, Zuchetti
Publikováno v:
Orphanet journal of rare diseases. 17(1)
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 laboratory tests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7e2d75bcbcf53a5e5fa4d5ebdf6de1
https://pubmed.ncbi.nlm.nih.gov/35209917
https://pubmed.ncbi.nlm.nih.gov/35209917
Autor:
Gabrielle N, Manzoli, Guney, Bademci, Angelina X, Acosta, Têmis M, Félix, F Basak, Cengiz, Joseph, Foster, Danniel S Dias, Da Silva, Ibis, Menendez, Isalis, Sanchez-Pena, Demet, Tekin, Susan H, Blanton, Kiyoko, Abe-Sandes, Xue Zhong, Liu, Mustafa, Tekin
Publikováno v:
Annals of human genetics. 80(6)
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a46925bf866f13d2d3f8adc9f01a90
https://pubmed.ncbi.nlm.nih.gov/27870113
https://pubmed.ncbi.nlm.nih.gov/27870113
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://explore.openaire.eu/search/publication?articleId=doajarticles::be1a3c044a1a7a799a9431195edfcf56
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292006000100010
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292006000100010
Psychotherapy involves a deep ethical commitment to self-knowl edge, personal change, and mutual respect by both the therapist and the patient. Unfortunately, therapists have not always lived up to that commitment in understanding and treating low
