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    Chapter

    In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

    Niemann–Pick type C (NPC) disease is a recessive disorder that results in unesterified cholesterol accumulating in the lysosomal and late endosomal system. It is caused by mutations in NPC1 or NPC2 genes and lead...

    E. Colin, M. Barth, F. Boussion, P. Latour, G. Piguet-Lacroix… in JIMD Reports, Volume 28 (2016)