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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    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
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    1. ClingenBaseline 21 Oct 2026
      205

      Case#: 205 5 yrs male, age at initial diagnosis 1.1 yrs DiseaseAssertion: MPS IH FamilyInfo:Nil CasePresentingHPOs: CaseHPOFreeText: CaseNotHPOs: CaseNotHPOFreeText: CaseEnzymeAssay: IDUA activity: low leukocyte IDUA enzyme activity CaseUrineGAGs: CaseERT: 1.5 yrs on ERT, then study drug, valanafusp alpha, also called AGT-181 for 12 months

      CaseBMT: No PreviouslyPublished Don't know Variant1:l Variant1: c.494-1G>A ClinVarID: 557942 Variant1CAID: Variant2:c.494-1G>A Variant2ClinVarID: 557942 Variant2CAID:

      inferred_gene_hgnc:2213 inferred_gene_source:ClinVar IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6034233/pdf/13023_2018_Article_849.pdf