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Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins
ArticleAbstract: Cystathionine β-synthase (CBS) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes thePalabras claves:Cystathionine beta-synthase, Homocystinuria, immunocytochemistry, Protein misfoldingAutores:Banerjee R., Casique L., Kabil O., M. De Lucca, Marisel De Lucca, Martínez J.C.Fuentes:googlescopusClinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria
ArticleAbstract: Introduction. Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1Palabras claves:Delayed diagnosis, Genotype/phenotype, Neonatal study, PKU, Psychomotor retardationAutores:Araujo K., Arias I., Bottaro M., Casique L., Colmenares A.R., Domínguez C.L., López M.E., M. De Lucca, Mahfoud A., Marisel De Lucca, Merzon R.M., Rodríguez T.Fuentes:googlescopusA novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
ArticleAbstract: Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism causedPalabras claves:Ecuadorian GALT mutation, GALACTOSEMIA, HRM, In silico study, Inborn error of galactose metabolism, Splicing mutationAutores:C. Barba, Casique L., M. De Lucca, Marisel De LuccaFuentes:googlescopusAlterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I
Book PartAbstract: Galactosemia type I is caused by a deficiency of the galactose-1-phosphate uridylyltransferase enzymPalabras claves:Duarte variant, Galactitol, galactose, Galactose-1-phosphate uridylyltransferase, GALACTOSEMIA, Galactosemia treatment, Glycosylation, Misfolding, p.Q188R mutation, Soy productsAutores:Casique L., Cornejo V., M. De Lucca, Marisel De LuccaFuentes:googlescopusMutation analysis of phenylketonuria in South Brazil
ArticleAbstract:Palabras claves:Autores:Desviat L.R., Giugliani R., Loghin-Grosso N., M. De Lucca, Marisel De Lucca, Perez B., Pires R.F., Schmidt B., Ugarte M.Fuentes:googlescopusMELAS a clinically and genetically heterogeneous syndrome
OtherAbstract:Palabras claves:Heteroplasmy, m.3243A>G, MELAS, mitochondrial DNA, PhenotypeAutores:Casique L., Luis Ramírez J., M. De Lucca, Mahfoud A., Marisel De LuccaFuentes:googlescopusPhenylketonuria of late diagnosis and associated mutations in an Ecuadorian family
ArticleAbstract: Phenylketonuria is an inborn error of metabolism due to mutations on the phenylalanine hydroxylase gPalabras claves:Mutation R252W, Phenylalanine hydroxylase, Phenylketonuria, Physical TherapyAutores:Carmen Barba-Guzmán, M. De Lucca, María Augusta Latta, Marisel De Lucca, Verónica De Los Ángeles Cobo SevillaFuentes:googlescopusThe 1, 2, 3 of laboratory animal experimentation
ReviewAbstract: The slow scientific development in Latin America in recent decades has delayed the incorporation ofPalabras claves:Animal experimentation, Animal use alternatives, animal welfare, BIOETHICS, Transgenic miceAutores:Ana Lucía Ruano, García-Rodríguez J., M. De Lucca, María García-Barceló, Marisel De Lucca, Rivera-Cervantes M.C., Soledad Sánchez-Mateos, W. Romero-Fernandez, Zenia Batista-CastroFuentes:googlescopus