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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 24 Oct 2026
      102

      Case#: Pt 102 , Age 37 years, Female, DiseaseAssertion: MPS1 Scheie syndrome. FamilyInfo: NA CasePresentingHPOs: NA CaseHPOFreeText: NA CaseNotHPOs: NA CaseNotHPOFreeText: NA

      CaseEnzymeAssay: Low leukocyte IDUA enzyme activity CaseUrineGAGs: NA CaseERT: No CaseBMT: No Variant1: p.Q70X Variant1ClinVarID: 11909 Variant1CAID: CA204563 Variant2:p.D445del Variant2ClinVarID: 840115 Variant2CAID: AdditionalVariants: NA ParentalGenotype: NA PreviouslyPublished:NA

      inferred_gene_hgnc:11363 inferred_gene_source:ClinVar IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6034233/pdf/13023_2018_Article_849.pdf