000			01971na a2200253 4500
003			PC8151
005			20180417114642.0
008			130622s2011 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aspa
100			_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_aQuijada Fraile, Pilar _91159 _ePediatría
100			_9657 _aGarcía Silva, María Teresa _eUnidad de Enfermedades Metabólicas y Mitocondriales
245	0	0	_aEvolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años _h[artículo]
260			_bMedicina Clínica (Barcelona), _c2011.
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.
710			_9446 _aServicio de Pediatría-Neonatología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc8151.pdf _ySolicitar documento
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999			_c8151 _d8151