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Ornithine transcarbamylase deficiency: identification of mutations, computational validation, and phenotypic correlation in argentinian patients
(2013)
Ornithine transcarbamylase deficiency (OTCD; Online Mendelian Inheritance in Man [OMIM] 311250) is an urea cycle defect with Xlinked inheritance. In hemizygous males, neonatal or late onset depends on the degree of ...
Creatine metabolism and hyperammonemia in argentinian patients with ornithine transcarbamilase deficiency
(2013)
Introduction: Creatine (Cr) biosynthesis requires 2 enzymes, arginine–glycine amidinotransferase and guanidinoacetate methyltransferase, and it can be taken up by cells using transporters. Recent studies demonstrated the ...
Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina
(Sociedad Americana de errores innatos del metabolismo y pesquisa neonatal, 2013)
Sandhoff Disease (SD) is a lysosomal storage disorder caused by mutations in the HEXB gene. A high incidence
of SD has been described in an Argentine region called ‘‘Valle de Traslasierra.’’ Mutations c.445þ1G>A and ...
Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
(2013)
The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second most frequent group lysosomal pathologies (LP) of childhood. They are characterized by the pathological accumulation of ...
Genetic defects in the liver phosphorylase system in Argentine patients nosological definition through a strategy of enzimatic and molecular analysis
(Universidad Nacional de Córdoba. Facultad de Ciencias Médicas., 2013)
The phosphorylase and phosphorylase-b kinase (PHK) deficiencies in the liver constitute the phosphorylase system defects (PSD), leading to Glycogenosis Type VI (GSD-VI) and Type IX (GSD-IX), respectively. The hepatic ...
Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD
(2013)
Background: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, characterized by increased concentrations of very long-chain fatty acids due to a defect in peroxisomal β-oxidation. ...