Article
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.
Molecular genetics and metabolism - 1 Jan 2000
Burton Barbara K, Ellis Alexandra G, Orr Blair, Chatlani Shilpa, Yoon Kwangchae, Shoaff Jessica R, Gallo Dan
Abstract excerpt
BACKGROUND: Niemann-Pick Disease Type C (NPC) is an ultra-rare progressive neurodegenerative disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes that lead to premature death, with most individuals dying between 10 and 25 years of age. NPC can present at any age and many individuals with NPC may be misdiagnosed or undiagnosed. A key challenge with recognizing NPC is the heterogeneous and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.