Browsing FCM - Congresos 2013 by Author "Angaroni, Celia"

Now showing items 1-2 of 2

    • Bone Diseases as the only clinical manifestation of gaucher disease type 

      Guelbert, Norberto; Robledo, Hugo; Becerra, Walter; Angaroni, Celia; Giner Ayala, Alicia; Ramírez Oller, Ana María; Dodelson Kremmer, Raquel (Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal, 2013)
      Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most ...

    • 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 ...