Changhong Li

A case of mucopolysaccharidosis I with severely increased albuminuria and Graves’ disease, and functional analysis of previously uncharacterized variant

Abstract Background Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders which results in accumulation of glycosaminoglycans throughout the body. MPS I is a subtype characterized by mutations in the α-L-iduronidase (IDUA) gene with subsequent multiorga...