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Article

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

10 Feb 2017

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an...

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PMID: 28276873
DOI: 10.1080/03007995.2017.1294054

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