Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.

Yingjun LiangXiaolan GaoDeyun LuHuiwen Zhangnull Zhang

Published in: Metabolic brain disease (2023)

This study analyzed the clinical, biochemical, and genetic characteristics of ten Chinese MPS IIIC patients, which would assist in the early diagnosis and genetic counselling of MPS IIIC.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
genome wide
dna methylation