Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children

CONCLUSIONS: Our study expands the spectrum of MPS II genotype, provides new insights into the molecular mechanisms of MPS II, and contributes to future studies of genotype-phenotypic associations to estimate prognosis and develop new treatment regimens.PMID:34670126 | DOI:10.1016/j.cca.2021.10.020

Source: International Journal of Clinical Chemistry - October 20, 2021 Category: Chemistry Authors: Xiao- Ying Zhao Guang-Ming Qiao Fang Liu Source Type: research