Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in <i>NPC1</i> or <i>NPC2</i>. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by <i>NPC1</i...

Full description

Bibliographic Details
Main Authors: Berna Seker Yilmaz, Julien Baruteau, Ahad A. Rahim, Paul Gissen
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:International Journal of Molecular Sciences
Subjects:
Niemann Pick disease type C
early infantile onset
neurological manifestations
Online Access:https://www.mdpi.com/1422-0067/21/14/5059

Internet

https://www.mdpi.com/1422-0067/21/14/5059

Similar Items