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Prenatal-Onset Niemann-Pick Type C Disease with Nonimmune Hydrops Fetails
(Elsevier Taiwan, 2013)
Niemann-Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive ...