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  1. No Access

    Article

    Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases

    Sandhoff disease, Gaucher disease type I and sialidosis type I are lysosomal storage disorders caused, respectively, by deficiency of activity of β-hexosaminidase (storage of GM2 and GA2 ganglioside), glucosylcer...

    R. Buccoliero, S. Palmeri, G. Ciarleglio… in Journal of Inherited Metabolic Disease (2007)

  2. No Access

    Article

    Leukoencephalopathy as a rare complication of hepatitis C infection

    We report the case of a 64-year-old female patient with hepatitis C infection (HCV), who developed Sjögren’s disease and sensory peripheral neuropathy. Clinical conditions worsened over three years with centra...

    R. Buccoliero, S. Gambelli, F. Sicurelli, A. Malandrini… in Neurological Sciences (2006)

  3. No Access

    Article

    Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

    Progressive lung infiltration is a major cause of death in Niemann–Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We repo...

    S. Palmeri, P. Tarugi, F. Sicurelli, R. Buccoliero, A. Malandrini… in Neurological Sciences (2005)

  4. No Access

    Article

    Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann–Pick A disease

    Summary: Sandhoff disease is caused by the defective activity of the lysosomal enzyme β-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2. Niemann–Pick A/B disease is caused by the defecti...

    R. Buccoliero, L. Ginzburg, A. H. Futerman> in Journal of Inherited Metabolic Disease (2004)