Pub. Date : 2021 Dec
PMID : 34670126
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | BACKGROUND: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare X-linked recessive genetic disease resulting from deficient activity of the iduronate-2-sulfatase(IDS) enzyme and the accumulation of glycosaminoglycans in almost all cells, tissues and organs, which makes viscera function impaired.This study retrospectively analyzed the clinical characteristics, leukocyte IDS activity and mutations in the IDS gene of 30 Chinese children with MPS II. | Glycosaminoglycans | iduronate 2-sulfatase | Homo sapiens |