Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Luiz Roberto, da Silva"'
Autor:
Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract 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 his
Externí odkaz:
https://doaj.org/article/fe807eda91c44bb690419f9711fa3e6f
Autor:
Natália Duarte Linhares, Eleonora Druve Tavares Fagundes, Alexandre Rodrigues Ferreira, Thaís Costa Nascentes Queiroz, Luiz Roberto da Silva, Sergio D. J. Pena
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction
Externí odkaz:
https://doaj.org/article/df7833407f724c688d217ef611eb91e3
Autor:
Luiz Alberto Fernandes, Fernando Antonio Sedor, Rafael Costa Da Silva, Adalberto Aurélio Azevedo, Luiz Roberto Da Silva, Ana Lúcia Gesicki, Irma Tie Yamamoto, Wilson Shoji Iyomasa
Publikováno v:
Anuário do Instituto de Geociências. 46
Porto Primavera geosite comprises aeolian sandstones with tetrapod trace fossil cropping out at the Porto Primavera Hydroelectric Power Plant, São Paulo State, Brazil. The Upper Cretaceous Rio Paraná Formation, which contains these tracks, is compo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ac3405511749fd320fe163549667ee9
https://doi.org/10.11137/1982-3908_2023_46_48245
https://doi.org/10.11137/1982-3908_2023_46_48245
Autor:
Késia Lara dos Santos Marques, Letícia Bruno Qualhato, Ana Carolina Candelas Peixoto, Célia Regina Moreira Lanza, Guilherme Silva Mendonça, Fabiana Sodré de Oliveira, Luiz Roberto da Silva
Publikováno v:
International Journal for Innovation Education and Research. 9:173-183
Congenital oropharyngeal teratoma is a rare tumor subtype with cells from the three germ layers, majorly being benign. Whereas teratoma develops early in intrauterine life, thus affecting the growth and development of adjacent structures, the purpose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29afd42ea2121cebeaa9583824999c4e
https://doi.org/10.31686/ijier.vol9.iss7.3225
https://doi.org/10.31686/ijier.vol9.iss7.3225
Autor:
Natália Duarte, Linhares, Eleonora Druve Tavares, Fagundes, Alexandre Rodrigues, Ferreira, Thaís Costa Nascentes, Queiroz, Luiz Roberto, da Silva, Sergio D J, Pena
Publikováno v:
Frontiers in genetics. 13
The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2b5d968aa57ed9d793d524a8b4c48a3a
https://pubmed.ncbi.nlm.nih.gov/35281816
https://pubmed.ncbi.nlm.nih.gov/35281816
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39e7632bd351eea7034c784b883d49d
https://pubmed.ncbi.nlm.nih.gov/34022924
https://pubmed.ncbi.nlm.nih.gov/34022924
Autor:
Luiz Roberto da Silva, Márcia Beatriz Nogueira da Rocha, Maria Catarina Gomes Gadêlha de Moura, Geisa Guimarães de Alencar, Gisela Rocha de Siqueira, Giselia Alves Pontes da Silva
Publikováno v:
Revista Brasileira de Ciência e Movimento. 23:74-80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9462ff37034cdb3149b0ad105570e923
https://doi.org/10.18511/0103-1716/rbcm.v23n2p74-80
https://doi.org/10.18511/0103-1716/rbcm.v23n2p74-80
Autor:
Vitor Ohnesorg Barbieri, Hector Yuri Conti Wanderley, Eliete Rabbi Bortolini, Maria Rita Passos Bueno, Luiz Roberto da Silva Santos, Aline Ximenes Fragoso, Renata Cristina Moreira Queiroz, Marya Duarte Pagotti, Andrea Lube Antunes de S. Thiago Pereira, Geisa Hossokawa Eguchi Neves, Regina Galvêas Oliveira Rebouças, Flavia Imbroisi Valle Errera, Sandra Willéia Martins, Maria do Carmo de Souza Rodrigues, Polyana Gonçalves Rocha, Ingrid Hellen André Barreto, Vera Lucia Maia, Larissa Souza Mario Bueno, José Carlos Frasson, Rafaela Martins Togneri
Publikováno v:
Salus Journal of Health Sciences. 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::824dbe617ebb660620190c665a78ca37
https://doi.org/10.5935/2447-7826.20160001
https://doi.org/10.5935/2447-7826.20160001
Autor:
Luiz Roberto da Silva, Gregory M. Pastores, Maira Graeff Burin, Ida Vanessa Doederlein Schwartz, Osvaldo Alfonso Pinto Artigalas, Nívea Macedo, Bai Zeng
Publikováno v:
Metabolic Brain Disease. 24:493-500
Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease in which the activities of all sulfatases are reduced; its estimated prevalence is 1:1.4 million births. The disease is caused by mutations in SUMF1, which encodes an enzyme in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cb1b839b7ae8a864455702074e9cec
https://doi.org/10.1007/s11011-009-9151-8
https://doi.org/10.1007/s11011-009-9151-8
Autor:
R. Giugliani, Luiz Roberto da Silva, Sandra Leistner, W. S. Sly, L. A. Todeschini, Maira Graeff Burin, Ida Vanessa Doederlein Schwartz, R. M. Islam, G. N. Shah, João Monteiro de Pina-Neto
Publikováno v:
Clinical Genetics. 64:172-175
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ffb53626a56e2d196c61e4b06264dc9
https://doi.org/10.1034/j.1399-0004.2003.00119.x
https://doi.org/10.1034/j.1399-0004.2003.00119.x