New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation

New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation

Bibliographic Details
Main Authors: L. López de Frutos, J. Romero-Imbroda, V. Rodríguez-Sureda, P. Giraldo
Format: Article
Language:English
Published: Elsevier España 2020-01-01
Series:Neurología (English Edition)
Online Access:http://www.sciencedirect.com/science/article/pii/S2173580819300641
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spelling doaj-71129a11e83643c58675af6a3d5ac2362020-11-25T02:54:36ZengElsevier EspañaNeurología (English Edition)2173-58082020-01-013515052New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisationL. López de Frutos0J. Romero-Imbroda1V. Rodríguez-Sureda2P. Giraldo3Instituto de Investigación Sanitaria Aragón (IIS Aragón), Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, Spain; Corresponding author.Servicio de Neurología, Hospital Comarcal de Melilla, Melilla, SpainCentro 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, SpainCentro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, Spainhttp://www.sciencedirect.com/science/article/pii/S2173580819300641
collection DOAJ
language English
format Article
sources DOAJ
author L. López de Frutos
J. Romero-Imbroda
V. Rodríguez-Sureda
P. Giraldo
spellingShingle L. López de Frutos
J. Romero-Imbroda
V. Rodríguez-Sureda
P. Giraldo
New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
Neurología (English Edition)
author_facet L. López de Frutos
J. Romero-Imbroda
V. Rodríguez-Sureda
P. Giraldo
author_sort L. López de Frutos
title New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
title_short New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
title_full New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
title_fullStr New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
title_full_unstemmed New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
title_sort new variant associated with niemann-pick disease type c: neurological manifestations and biochemical, molecular, and cellular characterisation
publisher Elsevier España
series Neurología (English Edition)
issn 2173-5808
publishDate 2020-01-01
url http://www.sciencedirect.com/science/article/pii/S2173580819300641
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AT vrodriguezsureda newvariantassociatedwithniemannpickdiseasetypecneurologicalmanifestationsandbiochemicalmolecularandcellularcharacterisation
AT pgiraldo newvariantassociatedwithniemannpickdiseasetypecneurologicalmanifestationsandbiochemicalmolecularandcellularcharacterisation
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