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003 | PC8151 | ||
005 | 20180417114642.0 | ||
008 | 130622s2011 xxx||||| |||| 00| 0 eng d | ||
040 | _cH12O | ||
041 | _aspa | ||
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_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales |
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_aQuijada Fraile, Pilar _91159 _ePediatría |
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_9657 _aGarcía Silva, María Teresa _eUnidad de Enfermedades Metabólicas y Mitocondriales |
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245 | 0 | 0 |
_aEvolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años _h[artículo] |
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_bMedicina Clínica (Barcelona), _c2011. |
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300 | _a137(Suppl 1):43-5. | ||
500 | _aFormato Vancouver: Quijada Fraile P, Martín Hernández E, García-Silva MT. Evolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años. Med Clin (Barc). 2011;137 Suppl 1:43-5. | ||
501 | _aPMID: 22230125 | ||
504 | _aContiene 5 referencias. | ||
520 | _aWe 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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_9446 _aServicio de Pediatría-Neonatología |
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_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc8151.pdf _ySolicitar documento |
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_c8151 _d8151 |