Estudio bioquímico, enzimático y genético de la deficiencia de hipoxantina guanina fosforribosiltransferasa (HPRT)
作者： R Torres Jiménez , F. Mateos Anton , T Ramos Hernández , J Arcas Martínez , A Buño Soto
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摘要: Objetivos: este trabajo recoge el diagnostico de la deficiencia HPRT, estudio del metabolismo las purinas, deteccion portadoras y prenatal en 16 familias espanolas. Conclusiones: los resultados indican que HPRT promueven un aumento degradacion nucleotidos purinicos conduce a incremento concentracion plasmatica urinaria hipoxantina, xantina acido urico cuya magnitud no esta relacionada con gravedad clinica.
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