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

• Hoofdauteurs: Ozge Surmeli-Onay (Auteur), Selin Yakarisik (Auteur), Ayse Korkmaz (Auteur), Zuhal Akcoren (Auteur), Aysel Yuce (Auteur), Heiko Runz (Auteur), Miriam Stampfer (Auteur), Murat Yurdakok (Auteur)
• Formaat: Boek
• Gepubliceerd in: Elsevier, 2013-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...