Laronidase, HSCT, and the Future of MPS I Management

adicionou um novo artigo Health

2025-06-17 09:56:09

Mucopolysaccharidosis Type I (MPS I) is a rare, inherited lysosomal storage disorder caused by mutations in the IDUA gene, which encodes the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down glycosaminoglycans (GAGs), including dermatan sulfate and heparan sulfate. In MPS I, deficiency or absence of alpha-L-iduronidase leads to progressive accumulation of GAGs in various...

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