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Nueva variante asociada a enfermedad de Niemann-Pick tipo C: manifestaciones neurológicas y caracterización bioquímica, molecular y celular
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation
L. López de Frutosa,
, J. Romero-Imbrodab, V. Rodríguez-Suredac, P. Giraldod
Autor para correspondencia
a Instituto de Investigación Sanitaria Aragón (IIS Aragón), Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, España
b Servicio de Neurología, Hospital Comarcal de Melilla, Melilla, España
c Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Centro de Investigaciones en Bioquímica y Biología Molecular-Nanomedicina, Institut de Recerca Hospital Vall d’Hebrón, Barcelona, España
d Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, España
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