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Identification and Structure Characterization of Novel IDS Variants Causing Mucopolysaccharidosis Type II: A Retrospective Analysis of 30 Chinese Children
source: Clinica chimica acta; international journal of clinical chemistry
year: 2021
authors: Zhao XY,Qiao GM,Liu F
summary/abstract: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.
organization: Department of Pediatrics, Hebei Medical University, Shijiazhuang 050000, Hebei, China.DOI: 10.1016/j.cca.2021.10.020
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