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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
    1
    1. ClingenBaseline 21 Oct 2026
      8

      Case#: Patient 8, male

      DiseaseAssertion: MPS I

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Low IDUA enzyme activity 1.50 (Ref. 4.87 ~ 54.70 μmol/g protein/h)

      CaseUrineGAGs: Negative GAG tests

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1081G>A (p.A361T)

      Variant1ClinVarID: 92624

      Variant1CAID: CA145865

      Variant2: c.1395delC (p.G466Afs*?)

      Variant2ClinVarID: 929236

      Variant2CAID: CA549264595

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:92624 CAID:CA145865 CAID:CA549264595 ClinVarID:929236 Gene:IDUA CaseInfo DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5970538/