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  • Title: [Clinical outcomes of 2 pediatric patients with Gaucher's disease in enzyme replacement therapy for 9 years].
    Author: Quijada Fraile P, Martín Hernández E, Teresa García-Silva M.
    Journal: Med Clin (Barc); 2011 Sep; 137 Suppl 1():43-5. PubMed ID: 22230125.
    Abstract:
    We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.
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