Browsing by Author "Dodelson de Kremer, Raquel"
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Creatine metabolism and hyperammonemia in argentinian patients with ornithine transcarbamilase deficiency
Martínez, Lidia; Bezard, Miriam; Silvera Ruiz, Silene; Dodelson de Kremer, Raquel; Larovere, Laura (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 ... -
Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience
Silvera Ruiz, Silene; Grosso, Carola L.; Tablada, Elena Margot; Cabrera, Marcelo; Dodelson de Kremer, Raquel; Juaneda, Ernesto; Laróvere, Laura E. (2020)Pulmonary hypertension (PH) is a major cause of morbi-mortality among patients with congenital heart disease (CHD) and also a potentially severe complication after surgical repair. Oral citrulline, a precursor to NO ... -
Genetic defects in the liver phosphorylase system in Argentine patients nosological definition through a strategy of enzimatic and molecular analysis
Agaroni, Celia Juana; Giner Ayala, Alicia; Castillo, Angéles; Paschini Capra, Agustín; Dodelson de Kremer, Raquel; Lanza, Victoria (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 ... -
Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
Sismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, Noelia; Alonso, Graciela; Pons, Patricia; Oller Ramírez, Ana María; Noher de Halac, Rita Inés; Dodelson de Kremer, Raquel (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 ... -
Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD
Amorosi, CA; Kemp, Stephan; Dodelson de Kremer, Raquel; Argaraña, Carlos; Ramírez Oller, Ana María (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. ... -
Ornithine transcarbamylase deficiency: identification of mutations, computational validation, and phenotypic correlation in argentinian patients
Silvera Ruíz, Silene Maite; Arranz Amo, Antonio; Dodelson de Kremer, Raquel; Larovere, Laura Elena (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 ... -
Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina
Mugnaini, Julia; Dodelson de Kremer, Raquel; Oller Ramírez, Ana María; Azar, Nydia Beatriz; Dardis, Andrea; Becerra, Adriana; Zampieri, S.; Guelbert, Norberto (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 ...