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