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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

8 Jun 2016

Abstract excerpt

Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due to the wide range in age of onset of NP-C and clinical presentation of the disease, combined with the complexity of the cell biology (filipin) laboratory testing, even in combination with genetic...

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PMID: 27339554
DOI: 10.1016/j.ymgme.2016.06.004

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