The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
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DOI: 10.1080/03007995.2017.1294054
Abstract: Abstract 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… read more here.
Keywords: early onset; clinical niches; disease; rare inherited ... See more keywords