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Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica
Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes
P. Quijada Frailea, E. Martín Hernándeza, A. Martínez de Aragónb, J. Macias-Vidalc, M.J. Collc, A. Nogales Espertd, M.T. García Silvaa,
a Unidad Pediátrica de Enfermedades Raras, E. Mitocondriales y Metabólicas Hereditarias, Hospital Universitario 12 de Octubre, Madrid, España
b Neurorradiología, Hospital Universitario 12 de Octubre, Madrid, España
c Instituto de Bioquímica Clínica, Hospital Clínic, Universidad de Barcelona, Barcelona, España
d Departamento de Pediatría, Hospital Universitario 12 de Octubre, Madrid, España
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