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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I
    1
    1. ClingenBaseline 22 Oct 2026
      5

      Case#: Subject 5, female in her 20s (age at enrollment)

      DiseaseAssertion: MPS1-HS

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002176 (Spinal cord compression)

      CaseHPOFreeText: Improved balance, decreased spasticity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes - Enzyme replacement therapy with laronidase, showed no worsening in symptoms of spinal cord compression or neurologic findings.

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.396insAC - variant not known; an option could be c.397_398insCA

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      396insAC Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4572891/