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2012, Número 1

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Rev Cub Gen 2012; 6 (1)


Aspectos bioquímicos, genéticos y comorbilidades de la enfermedad de Gaucher, diagnóstico molecular en Cuba

Acanda RAM

Idioma: Español
Referencias bibliográficas: 87
Paginas: 8-19
Archivo PDF: 473.61 Kb.


RESUMEN

La enfermedad de Gaucher es la esfingolipidosis más común, causada por la deficiencia de la glucocerebrosidasa, una enzima lisosomal que cataliza la hidrólisis de la glucosilceramida en glucosa y ceramida. Se han descrito más de 250 mutaciones que se expanden a lo largo del gen que codifica esta enzima. Las manifestaciones clínicas son multisistémicas con un amplio espectro y en ocasiones no se correlacionan bien con el genotipo específico. Este trabajo presenta una actualización sobre distintos aspectos de la enfermedad de Gaucher y su diagnóstico molecular en Cuba.


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