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Article

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

The neurologist - 1 Nov 2003

Patterson Marc C

Abstract excerpt

BACKGROUND: Niemann-Pick disease, type C (NPC), is a lipid storage disease that may present at any age from fetal life to the seventh decade. Its protean manifestations include hepatic and pulmonary failure, as well as a range of progressive neuropsychiatric phenotypes. Late onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied. REVIEW SUMMARY: The...

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PMID: 14629784
DOI: 10.1097/01.nrl.0000094627.78754.5b

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