Article
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Metabolic brain disease - 1 Aug 2023
Liang Yingjun, Gao Xiaolan, Lu Deyun, Zhang Huiwen, Zhang
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type IIIC (MPS IIIC; Sanfilippo syndrome C) is a rare lysosomal storage disease caused by mutations in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene, resulting in the accumulation of heparan sulfate. MPS IIIC is characterized by severe neuropsychiatric symptoms and mild somatic symptoms. METHODS: Our study analyzed the clinical presentation and biochemical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.