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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study
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    1. Vibhor 09 Jul 2026
      Table 2.

      Case#:Not assigned

      DiseaseAssertion:MPS type I with evidence of cognitive impairment defined as a score of at least 1 SD below mean on IQ testing or in one domain of neuropsychological function; attenuated MPS I

      FamilyInfo:No information

      CasePresentingHPOs:HP:0100543

      CaseHPOFreeText:

      CaseNotHPOs:HP:0032557

      CaseNotHPOFreeText:Subjects were excluded if they had undergone hematopoietic stem cell transplantation, were unable to comply with study procedures, had significant lumbar pathology precluding access to the intrathecal space via lumbar puncture, or significantly impaired spinal CSF flow as detected on a nuclear medicine flow study as part of screening.

      CaseEnzymeAssay:No information

      CaseUrineGAGs:No information

      CaseERT:Yes

      CaseBMT:No (exclusion criterion)

      Variant1:65delC

      Variant1ClinVarID:

      Variant1CAID:

      Variant2:H240R

      Variant2ClinVarID:947028

      Variant2CAID:

      AdditionalVariants:N/A

      ParentalGenotype:Not specified

      PreviouslyPublished

      Gene:IDUA PMCID:PMC7813548 DiseaseEntity:MPS1 Zygosity:CompoundHeterozygous ClinVarID:947028 IDUA variant annotation hgnc_imputed:ClinVar
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    pmc.ncbi.nlm.nih.gov/articles/PMC7813548/