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	Provedor de dados Genet. Mol. Biol. (1) Autor Brunetti,Iguatemy L. (1) Cruzes,Vania M. (1) Moretti-Ferreira,Danilo (1) Otto,Paulo A. (1) Scalco,Fernanda B. (1) Palavra-chave 7-dehydrocholesterol (1) Cholesterol metabolism (1) Smith-Lemli-Opitz syndrome (1) Tipo do documento Info:eu-repo/semantics/article (1) Ano 2006 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients Genet. Mol. Biol. Scalco,Fernanda B.; Otto,Paulo A.; Brunetti,Iguatemy L.; Cruzes,Vania M.; Moretti-Ferreira,Danilo. Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify and evaluate the frequency of SLOS manifestations in a group of Brazilian patients. Based on our own data and those reported previously, we present a simple method that allows the estimation of probabilities favoring the diagnosis of SLOS. We evaluated 30 patients clinically and determined their plasma levels of cholesterol and 7-dehydrocholesterol. In 11 patients, the diagnosis was confirmed by ultraviolet spectrophotometry (UV). Of 19 patients with normal... Tipo: Info:eu-repo/semantics/article Palavras-chave: Smith-Lemli-Opitz syndrome; Cholesterol metabolism; 7-dehydrocholesterol. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300003 Registros recuperados: 1 Primeira ... 1 ... Última

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