Zobrazeno 1 - 4
of 4
pro vyhledávání: '"João Francisco de Oliveira Gonzales"'
Autor:
Maria Angélica Tosi Ferreira, João Francisco de Oliveira Gonzales, Elisa Pacheco Estima Correia, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
Publikováno v:
Revista Brasileira de Oftalmologia, Vol 78, Iss 6, Pp 403-405 (2019)
Abstract X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold. Visual changes may be present, bu
Externí odkaz:
https://doaj.org/article/bc676d86746646c9ab162d5ee66f423d
Autor:
Daniel Kanami Kuratani, Maria Angélica Tosi Ferreira, Ygor Arzeno Ferrão, Rafael Fabiano Machado Rosa, Ivan Gonçalves de Almeida Júnior, João Francisco de Oliveira Gonzales, Lisieux Elaine de Borba Telles, Paulo Ricardo Gazzola Zen
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Arquivos Brasileiros de Oftalmologia, Iss 0 (2019)
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Arquivos Brasileiros de Oftalmologia, Iss 0 (2019)
A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0366d483abdc98c30076f3bc08277d9b
Autor:
Maria Angélica Tosi Ferreira, Rosana Cardoso Manique Rosa, Ana Elisa K. Bau, Paulo Ricardo Gazzola Zen, João Francisco de Oliveira Gonzales, Bruna Lixinski Diniz, Rafael Fabiano Machado Rosa, Maiara A. Floriani
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 54, Iss 5, Pp 333-335 (2018)
Monilethrix is a genetic condition that affects the hair shaft. We describe a family with this disease, focusing on its clinical aspects and microscopic hair characteristics. The patient was a 10-year-old female with history of hypotrichosis. In addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70097fa869157f909dfbcd82faa49e21
https://doi.org/10.5935/1676-2444.20180055
https://doi.org/10.5935/1676-2444.20180055
Increased levels of chitotriosidase in a patient with Alagille syndrome: association or coincidence?
Autor:
Paulo Ricardo Gazzola Zen, Bruna Lixinski Diniz, Maiara A. Floriani, Maria Angélica Tosi Ferreira, Nathan H. Lisboa, Janaina Yacy H. Ferreira, André Ricardo Jakimiu, Rafael Fabiano Machado Rosa, João Francisco de Oliveira Gonzales
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 54, Iss 1, Pp 37-39 (2018)
We describe a case of a patient with Alagille syndrome (AS) presenting an increased level of the enzyme chitotriosidase (ChT), evaluating factors that could justify the relationship between AS and ChT. He was a male patient with cholestatic jaundice,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaad3661f69b9b534f4b2e93a4e98019
https://doi.org/10.5935/1676-2444.20180008
https://doi.org/10.5935/1676-2444.20180008