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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:googlescopusGlucocerebrosidase mutations are also found in subjects with early-onset Parkinsonism from Venezuela [1]
OtherAbstract:Palabras claves:Autores:Eblan M.J., Gallardo M., Hanson M., Lwin A., M. De Lucca, Nguyen J., Sidransky E., Singleton A., Weiser R., Ziegler S.G.Fuentes:scopusImproving phenylketonuria genotyping by screening for the IVS4 + 5g > t mutation in the PAH gene
OtherAbstract:Palabras claves:Autores:Araujo K., Arias I., Casique L., M. De Lucca, Merzon R.M.Fuentes:scopusIndependent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
ArticleAbstract: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multiPalabras claves:Heteroplasmy, MELAS syndrome, Mitochondrial haplogroup, MT-TL1 gene, MtDNA, Venezuelan patientsAutores:Casique L., Domínguez C.L., Florez I., M. De Lucca, Mahfoud A., Pirrone I., Ramirez J.L., Rodríguez D., Rodríguez T.Fuentes:scopusMELAS 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:googlescopusMolecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
ArticleAbstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylasePalabras claves:Expression analysis, mutation, PKUAutores:Desviat L.R., M. De Lucca, Perez B., Ugarte M.Fuentes:scopusMolecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
ArticleAbstract: Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gPalabras claves:Autores:Cornejo V., Desviat L.R., M. De Lucca, Perez B., Raimann E., Ugarte M.Fuentes:scopus