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	Provedor de dados BJMBR (2) Autor Matte,U.S. (2) Bulhões,A.C. (1) Burin,M.G. (1) Cecchin,C. (1) Giugliani,R. (1) Goldani,H.A.S. (1) Jardim,L.B. (1) Mazzuca,R.B. (1) Netto,C.B. (1) Oliveira,F.S. (1) Pereira,F.S. (1) Silveira,T.R. (1) Mais... Palavra-chave A-Galactosidase A (1) Fabry disease (1) GLA gene (1) Globotriaosylceramide storage (1) Hydrogen breath test (1) LCT polymorphism (1) Lactase-phlorizin hydrolase (1) Lactose intolerance (1) Lysosomal disorders (1) Milk intolerance (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2007 (2) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia BJMBR Bulhões,A.C.; Goldani,H.A.S.; Oliveira,F.S.; Matte,U.S.; Mazzuca,R.B.; Silveira,T.R.. The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase (LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test (HBT). Ten milk-tolerant and 10 milk-intolerant individuals underwent the HBT after oral ingestion of 50 g lactose (equivalent to 1 L of milk). Analyses for C/T-13910 and G/A-22018 mutations were performed using a PCR-based method. Primers were designed for this study based on the GenBank sequence. The CT/GA, CT/AA, and TT/AA genotypes (lactase persistence) were found in... Tipo: Info:eu-repo/semantics/article Palavras-chave: Hydrogen breath test; Lactase-phlorizin hydrolase; Lactose intolerance; Milk intolerance; LCT polymorphism. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001100004 Genomic analysis of Brazilian patients with Fabry disease BJMBR Pereira,F.S.; Jardim,L.B.; Netto,C.B.; Burin,M.G.; Cecchin,C.; Giugliani,R.; Matte,U.S.. Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000... Tipo: Info:eu-repo/semantics/article Palavras-chave: Fabry disease; Lysosomal disorders; A-Galactosidase A; Globotriaosylceramide storage; GLA gene. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001200002 Registros recuperados: 2 Primeira ... 1 ... Última

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