Browsing FCM - Congresos 2013 by Author "Ramírez Oller, Ana María"

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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 ...

    • 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. ...