Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Nefrología - Tập 43 - Trang 90-94 - 2023
Pablo Rodríguez Doyágüez1, Mónica Furlano2, Elisabet Ars Criach3, Yolanda Arce4, Lluís Guirado5, Roser Torra Balcells2
1Sección de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España
2Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Institut d’Investigació Biomèdica Sant Pau (IIB-SANT PAU), Universidad Autónoma Barcelona, Barcelona, España
3Laboratorio de Biología Molecular, Fundació Puigvert, Institut d’Investigació Biomèdica Sant Pau (IIB-SANT PAU), Barcelona, España
4Sección de Anatomía Patológica, Fundació Puigvert, Barcelona, España
5Servicio de Nefrología, Fundació Puigvert, Institut d’Investigació Biomèdica Sant Pau (IIB-SANT PAU), Universidad Autónoma Barcelona, Universitat Central de Catalunya (UVIC), Barcelona, España

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