Browsing Facultad de Ciencias Médicas by Author "Giner Ayala, Alicia"

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    • 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 ...

    • 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 ...