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- W2282162340 abstract "Background and objectiveMucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100,000 live births. Enzyme replacement therapy (ERT) with recombinant α-L-iduronidase (laronidase) has shown to significantl improve the quality of life in children. To describe clinical characteristics, enzyme activity and genetic finding in the first Vietnamese patient with MPS type I with aldurazyme replacement therapy." @default.
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- W2282162340 date "2015-05-09" @default.
- W2282162340 modified "2023-09-26" @default.
- W2282162340 title "AB126. Enzyme replacement therapy in patient with mucopolysaccharidosis type I: a case report" @default.
- W2282162340 doi "https://doi.org/10.3978/j.issn.2305-5839.2015.ab127" @default.
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