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	Provedor de dados Genet. Mol. Biol. (2) BJMBR (1) Autor Albano,Lucia (1) Brites,A. (1) C. Neto,E. (1) Castilhos,C. (1) Cozzolino,Carla (1) DeMari,J. (1) Frisso,Giulia (1) Gallo,Giovanna (1) Giugliani,R. (1) Giugliani,Roberto (1) Jensen,K.P. (1) Lewis,E. (1) Romanelli,Roberta (1) Rubim,R. (1) Ruoppolo,Margherita (1) Schulte,J. (1) Scolamiero,Emanuela (1) Villani,Guglielmo RD (1) Wolf,B. (1) Mais... Palavra-chave Newborn screening (3) 3-Methylcrotonylglycinuria (1) 3-methylcrotonyl-CoA carboxylase deficiency (1) Biotinidase (1) Biotinidase deficiency (1) Enzyme assay (1) Enzyme replacement therapy (1) Lysosomal diseases (1) MCCC2 mutations (1) Mucopoloysaccharidoses (1) Mutations (1) Organic aciduria (1) Prenatal diagnosis (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Info:eu-repo/semantics/other (1) Ano 2018 (1) 2012 (1) 2004 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl Genet. Mol. Biol. Cozzolino,Carla; Villani,Guglielmo RD; Frisso,Giulia; Scolamiero,Emanuela; Albano,Lucia; Gallo,Giovanna; Romanelli,Roberta; Ruoppolo,Margherita. Abstract 3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine. The phenotype of 3-MCC deficiency is highly variable, ranging from severe neurological abnormalities and death in infancy to asymptomatic adults. Here we report the biochemical and molecular characterization of an Italian... Tipo: Info:eu-repo/semantics/article Palavras-chave: 3-Methylcrotonylglycinuria; MCCC2 mutations; 3-methylcrotonyl-CoA carboxylase deficiency; Newborn screening; Organic aciduria. Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300379 Mucopolysacccharidoses: from understanding to treatment, a century of discoveries Genet. Mol. Biol. Giugliani,Roberto. After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or GAGs) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as "mucopolysaccharidoses" (MPS). In the late 1960's it was demonstrated that MPS were caused by defects in the breakdown of GAGs, and the specific enzyme deficiencies for the 11 types and subtypes of MPS were identified thereafter. Genes involved in the MPS were subsequently identified, and a large number of disease-causing mutations were... Tipo: Info:eu-repo/semantics/article Palavras-chave: Mucopoloysaccharidoses; Lysosomal diseases; Enzyme replacement therapy; Prenatal diagnosis; Newborn screening. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600006 Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations BJMBR C. Neto,E.; Schulte,J.; Rubim,R.; Lewis,E.; DeMari,J.; Castilhos,C.; Brites,A.; Giugliani,R.; Jensen,K.P.; Wolf,B.. Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability... Tipo: Info:eu-repo/semantics/other Palavras-chave: Newborn screening; Biotinidase deficiency; Biotinidase; Mutations; Enzyme assay. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000300001 Registros recuperados: 3 Primeira ... 1 ... Última

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