Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Emília Katiane Embiruçu de Araújo Leão"'
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:
Cibele Gomes Bicalho, Emília Katiane Embiruçu de Araújo Leão, Álvaro Muiños de Andrade, Angelina Xavier Acosta
Publikováno v:
International Archives of Otorhinolaryngology, Vol 25, Iss 03, Pp e386-e391 (2021)
Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinica
Externí odkaz:
https://doaj.org/article/57b0b93c60c9468a80c8d425832f685d
Autor:
Eduardo Manoel Figueiredo, Juan Ignacio Calcagno, Cristina Salles, Isadora Cristina de Siqueira, Juliana Menezes Gomes Cabral de Oliveira, Angelina Xavier Acosta, Marcia W. Carneiro, Breno Lima de Almeida, Rosana Pellegrini, Marta Giovanetti, Iluska Andrade Agra, Emília Katiane Embiruçu de Araújo Leão, João Vitor Oliveira, Adriana Virgínia Barros Faiçal, Rita Lucena, Tereza Cristina Xavier Carvalho, Luiz Carlos Junior Alcantara
Publikováno v:
International Journal of Infectious Diseases, Vol 114, Iss, Pp 128-131 (2022)
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 gene fragment
Autor:
Dione Fernandes Tavares, Bruna Souza Magalhães, Emília Katiane Embiruçu de Araújo Leão, Joanna Goes Castro Meira, Gerson Shigeru Kobayashi, Isabella Brige Bonifácio Ferreira
Publikováno v:
American Journal of Medical Genetics Part A. 185:1569-1574
Heterozygous variants in USP9X are associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome characterized by neurodevelopmental delay, intellectual disability (ID), and a wide variety of additional congenital anomalies
Autor:
Emília Katiane Embiruçu de Araújo Leão, Cibele Gomes Bicalho, Álvaro Muiños de Andrade, Angelina Xavier Acosta
Publikováno v:
International Archives of Otorhinolaryngology v.25 n.3 2021
International Archives of Otorhinolaryngology
Fundação Otorrinolaringologia (FORL)
instacron:FORL
International Archives of Otorhinolaryngology, Vol 25, Iss 03, Pp e386-e391 (2021)
International Archives of Otorhinolaryngology, Volume: 25, Issue: 3, Pages: 386-391, Published: 13 SEP 2021
International Archives of Otorhinolaryngology
Fundação Otorrinolaringologia (FORL)
instacron:FORL
International Archives of Otorhinolaryngology, Vol 25, Iss 03, Pp e386-e391 (2021)
International Archives of Otorhinolaryngology, Volume: 25, Issue: 3, Pages: 386-391, Published: 13 SEP 2021
Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a400926e810439568f0224fd84527b
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1809-48642021000300386
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1809-48642021000300386
Autor:
Carlos Maurício Cardeal Mendes, Isabel Cristina Britto Guimarães, Emília Katiane Embiruçu de Araújo Leão, Moisés Imbassahy Guimarães Moreira, Mirela Frederico de Almeida Andrade, Angelina Xavier Acosta
Publikováno v:
Jornal de Pediatria, Vol 95, Iss 4, Pp 475-481 (2019)
Jornal de Pediatria v.95 n.4 2019
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria v.95 n.4 2019
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
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
Autor:
Liane de Rosso Giuliani, Maria Espírito Santo Almeida Moreira, Luiz Roberto da Silva, Isabel Cristina Neves de Souza, Tatiéle Nalin, Chong Ae Kim, Melissa Rossi Calvão Dumas, Diego Santana Chaves Geraldo Miguel, Paula Frassinetti Vasconcelos de Medeiros, Carlos Henrique Paiva Grangeiro, Luiz Carlos Santana da Silva, Roberto Giugliani, Anneliese Lopes Barth, Dafne Dain Gandelman Horovitz, Daniel M. Garcia, José Francisco da Silva Franco, Emília Katiane Embiruçu de Araújo Leão, Helena Maria Guimarães Pimentel dos Santos
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and
Autor:
Andrea Nunes, Ana Paula Pereira Scholz de Magalhães, Caio Cunha, Emília Katiane Embiruçu de Araújo Leão, Roberto Giugliani, Marielza Veiga, Joanna Goes Castro Meira, Diana Rojas Málaga
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200010, Published: 16 DEC 2020
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient activity of the tripeptidyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12f8090a76dba042b274122a8bb6068
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100504&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100504&lng=en&tlng=en
Autor:
Bethania F.R. Ribeiro, Dafne Dain Gandelman Horovitz, Ana Cecília Menezes de Siqueira, Renata C.F. Bonatti, José Francisco da Silva Franco, Erlane Marques Ribeiro, Charles Marques Lourenço, Alexandra Gonçalves, Angelina Xavier Acosta, Ane S.S. Pereira, Liane de Rosso Giuliani, Joao I. C. F. Neri, Chong Ae Kim, Leniza C.L. Lichtvan, Anneliese Lopes Barth, Emília Katiane Embiruçu de Araújo Leão, Marcelo Kerstenetzky, Ana Maria Martins, Thaís B. Teixeira, Maria do Carmo S. Rodrigues, Francisca C. Santos
Publikováno v:
Molecular genetics and metabolism. 133(1)
Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional impairment and shortened lifespan. Enzyme replacement therapy (ERT) with galsulfase has been s
Autor:
Laercio Cardoso, Sandra Obikawa Kyosen, Anneliese Lopes Barth, Ana Carolina Esposito, Angelina Xavier Acosta, Carolina Fischinger Moura de Souza, Ana Maria Martins, Anna Hlavatá, Dafne Dain Gandelman Horovitz, Emília Katiane Embiruçu de Araújo Leão, Roberto Giugliani, Michel Tchan, Katarina Hlavatá
Publikováno v:
Orphanet Journal of Rare Diseases
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Sanofi Genzyme Sanofi Genzyme, Cambridge, MA, USA Background: Enzyme replacement therapy (ERT) with laronidase (recombinant human alpha-L-iduronidase, Aldurazyme (R)) is indicated for non-neurological signs and symptoms of mucopolysaccharidosis type