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Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

BACKGROUND: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at alleviating symptoms and stabilizing disease prog...

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Autores principales:	Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367842/ https://www.ncbi.nlm.nih.gov/pubmed/30732631 http://dx.doi.org/10.1186/s13023-019-0996-6

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