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

• Egile Nagusiak: Ozge Surmeli-Onay (Egilea), Selin Yakarisik (Egilea), Ayse Korkmaz (Egilea), Zuhal Akcoren (Egilea), Aysel Yuce (Egilea), Heiko Runz (Egilea), Miriam Stampfer (Egilea), Murat Yurdakok (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2013-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...