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	Provedor de dados 56 (2) Autor Scalco,F.B. (2) Brunetti,I.L. (1) Coelho,J.C. (1) Cruzes,V.M. (1) Giugliani,R. (1) Moretti-Ferreira,D. (1) Tobo,P. (1) Vendramini,R.C. (1) Mais... Palavra-chave 3ß-Hydroxysteroid-delta-7-reductase (1) 7-Dehydrocholesterol (1) Cholesterol (1) Cholesterol metabolism (1) Lysosomal storage disorders (1) Niemann-Pick disease (1) Smith-Lemli-Opitz (1) Sphingomyelinase (1) Ultraviolet spectrophotometry (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2003 (1) 1999 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry 56 Scalco,F.B.; Cruzes,V.M.; Vendramini,R.C.; Brunetti,I.L.; Moretti-Ferreira,D.. Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present... Tipo: Info:eu-repo/semantics/article Palavras-chave: Smith-Lemli-Opitz; 3ß-Hydroxysteroid-delta-7-reductase; Cholesterol; 7-Dehydrocholesterol; Ultraviolet spectrophotometry. Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000008 Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts 56 Scalco,F.B.; Giugliani,R.; Tobo,P.; Coelho,J.C.. Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount of intracellular cholesterol was measured in 8 cultures of normal fibroblasts and in 7 fibroblast cultures from NPC patients. DMSO was added to the fibroblast cultures at three different concentrations (1, 2 and 4%, v/v) and the cultures were incubated for 24 h. Sphingomyelinase activity was significantly increased in both groups of cells only when incubated with 2% DMSO (59.4 ± 9.1 and 77.0 ± 9.1 nmol h-1 mg protein-1, controls without and with 2% DMSO, respectively; 47.7 ± 5.2 and 55.8 ± 4.1 nmol h-1 mg protein-1, NPC without and with... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cholesterol metabolism; Sphingomyelinase; Niemann-Pick disease; Lysosomal storage disorders. Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000100003 Registros recuperados: 2 Primeira ... 1 ... Última

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