Navegação Ciências Biológicas por Assunto "Iduronidase"
Resultados 1-3 de 3
-
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
(2019) [Artigo de periódico]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ... -
Long-term reestablishment of alpha-L-iduronidase activity in MPS I fibroblasts after non-viral gene transfer
(2017) [Artigo de periódico] -
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha) : an open label phase 1-2 trial
(2018) [Artigo de periódico]Background: Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitive ...