Prenatal-Onset Niemann-Pick Type C Disease with Nonimmune Hydrops Fetalis

• Main Authors: Ozge Surmeli-Onay (Author), Selin Yakarisik (Author), Ayse Korkmaz (Author), Zuhal Akcoren (Author), Aysel Yuce (Author), Heiko Runz (Author), Miriam Stampfer (Author), Murat Yurdakok (Author)
• Format: Book
• Published: Elsevier, 2013-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 disorder occurs in approximately 1/150,000 births. The broad clinical spectrum r...