Browsing FCM - Congresos 2013 by Author "Silvera Ruiz, Silene"
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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 ... -
Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
Laróvere, Laura; Silvera Ruiz, Silene; Arranz, José; Angaroni, Celia; Guelbert, Norberto; Antonozzi, Sandra; Bezard, Miriam; Dodelson de kremer, Raquel (2013)Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from asymptomatic to severe, mostly with cerebral damage. Objective: to communicate the autochthonous experience in the ...