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	Provedor de dados 45 (1) 56 (1) Autor Martins,A.M. (2) Aranda,P. (1) Araújo,F.T. (1) Cravo,R. (1) Fox,D.C. (1) Meireles,M.C.A. (1) Micheletti,C. (1) Nonino,A. (1) Pereira,L.V. (1) Robaldo,R.B. (1) Rozenberg,R. (1) Silva Filho,R.P. (1) Sobreira,E. (1) Xavier,M.O. (1) Mais... Palavra-chave Allele dose-effect (1) GBA gene (1) Gaucher disease (1) Hematocrit (1) Oiled (1) Sphenisciformes (1) Total plasma protein (1) Weight (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2015 (1) 2006 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Blood parameters and measurements of weight in the rehabilitation of Magellanic penguins (Spheniscus magellanicus, Foster 1781) 45 Martins,A.M.; Silva Filho,R.P.; Xavier,M.O.; Meireles,M.C.A.; Robaldo,R.B.. During the austral winter the appearance of the Magellanic penguin (Spheniscus magellanicus) is common on the southern coast of Brazil. The oil pollution constitutes a major cause of death of these birds. The monitoring of the weight and blood variables is important to make decisions during the rehabilitation and release of these animals. Thus, the aim of this study was to evaluate the relationship between the penguins' survival during rehabilitation and the values of hematocrit (Hct), total plasma protein (TPP) and body weight (BW) of the birds received at Centro de Recuperação de Animais Marinhos (Recovery Centre for Sea Animals) between 2006 and 2009. The analysis took place weekly, and penguins were classified according to the outcome of the... Tipo: Info:eu-repo/semantics/article Palavras-chave: Sphenisciformes; Oiled; Hematocrit; Total plasma protein; Weight. Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352015000100125 High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients 56 Rozenberg,R.; Araújo,F.T.; Fox,D.C.; Aranda,P.; Nonino,A.; Micheletti,C.; Martins,A.M.; Cravo,R.; Sobreira,E.; Pereira,L.V.. Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47% of all the alleles, but N370S/N370S homozygosity was found in only 10% of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention.... Tipo: Info:eu-repo/semantics/article Palavras-chave: Gaucher disease; GBA gene; Allele dose-effect. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004 Registros recuperados: 2 Primeira ... 1 ... Última

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