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A 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:googlescopusCharacterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: Identification of one novel mutation in exon 6
ArticleAbstract: This study describes for the first time the cystathionine β-synthase (CBS) gene mutations in VenezuePalabras claves:Cystathionine β-synthase, Homocystinuria, Mutation analysis, Single-strand conformational polymorphism, VENEZUELAAutores:Casique L., M. De LuccaFuentes:scopusClinical 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:googlescopusIndependent 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:scopus