Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Coelho Janice Carneiro"'
Publikováno v:
Genetics and Molecular Biology, Vol 23, Iss 2, Pp 269-271 (2000)
Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort a
Externí odkaz:
https://doaj.org/article/135699b9345b42549c07fab74dde1b11
Autor:
Santos Cláudia Maria Carvalho dos, Correia Patrícia Santana, Rosa Antônio Abílio Santa, Vaniazzi Elde, Coelho Janice Carneiro, Burin Maira Graeff, Giugliani Roberto, Fensom Anthony H., Oliveira Cesário Paulo Honório de, Oliveira Maria Lúcia Costa de, Llerena Jr. Juan Clinton
Publikováno v:
Genetics and Molecular Biology, Vol 21, Iss 4 (1998)
We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features wer
Externí odkaz:
https://doaj.org/article/37d536d2271b47bda24eefe7d60daac7
Autor:
Cé, Jaqueline, Rodrigues, Melissa Tôrres, Käfer, Eduarda Tassoni, da Costa Moraes, Vitória, Coelho, Janice Carneiro
Publikováno v:
In Clinical Biochemistry December 2017 50(18):1243-1248
Autor:
de Mello, Alexandre Silva, da Silva, Ivy Reichert Vital, Reinaldo, Gustavo Pereira, Dorneles, Gilson Pires, Cé, Jaqueline, Lago, Pedro Dal, Peres, Alessandra, Elsner, Viviane Rostirola, Coelho, Janice Carneiro
Publikováno v:
In Clinical Biochemistry March 2017 50(4-5):228-233
Autor:
Seabra Souza, Fernanda Timm, Souza Sostruznik, Luana, Casagrande Scolari, Roberta, Maciel de Castro, Karen Joana, Giugliani, Roberto, Coelho, Janice Carneiro
Publikováno v:
In Clinical Biochemistry 2007 40(8):521-525
Autor:
Michelin, Kristiane, Wajner, Alessandro, Bock, Hugo, Fachel, Ângela, Rosenberg, Roberto, Flores Pires, Ricardo, Saraiva Pereira, Maria Luiza, Giugliani, Roberto, Coelho, Janice Carneiro
Publikováno v:
In Clinica Chimica Acta 2005 362(1):101-109
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Objetivo: Identifi car os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre 2013 e 2015. A amostra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::42b31fd3c1ebefaec2d68e8b86f1c160
Akademický článek
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Autor:
Souza, Fernanda Timm Seabra, Sostruznik, Luana Souza, Scolari, Roberta Casagrande, Castro, Karen Joana Maciel de, Andrade, Carla Vieira, Giugliani, Roberto, Coelho, Janice Carneiro
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
This study was designed to evaluate the effect of mycoplasma contamination on acid hydrolase activity and the action of the mycoplasma removal agent (MRA), in cultures of human fibroblasts from individuals with lysosomal diseases. For this purpose, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::a53c4da40af0c7d87f39f825bf0e2c40
Autor:
Balestrin, Raquel Cristina, Baldo, Guilherme, Vieira, Matheus Barbosa, Sano, Renata, Coelho, Janice Carneiro, Giugliani, Roberto, Matte, Ursula da Silveira
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000. The e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::2f2462d8f36899356ca39b6579c35991