CARTA CIENTÍFICA
Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión
A novel mutation in two spanish children with the Niemann Pick disease: Description of genotype, acid sphingomyelinase activity, phenotype and review
Pablo del Villar-Guerraa,
, Celia Reiga, Pilar Irúnb, Blanca Morenoa, Pilar Giraldob, Jorge J. Cebollac
a Servicio de Pediatría, Complejo Asistencial de Segovia, Segovia, España
b Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto de Salud Carlos III (ISCIII), Instituto Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, España
c Departamento de Bioquímica, Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Zaragoza, España
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