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Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Niemann-Pick type C (NP-C) disease is a neurovisceral disorder caused by mutations in the NPC1 and NPC2 genes. It is characterized by lysosomal storage of a broad range of lipids as a result of abnormal intracellular lipid trafficking. Typically patients develop neurodegeneration; however, the speed...

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Detalhes bibliográficos
Publicado no:Ther Adv Neurol Disord
Main Authors: Papandreou, Apostolos, Gissen, Paul
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4811014/
https://ncbi.nlm.nih.gov/pubmed/27134677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1756285616635964
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