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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
    1
    1. ClingenBaseline 24 Oct 2026
      31

      Case#: Patient 31 (Table 3)

      DiseaseAssertion: Severe naïve MPS 1

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2 nmol/h/mg per DBS (dried blood spots) determined during NBS. 7.57 relative protein abundance, expressed as the ratio between IDUA/GAA (amol / fmol) in buccal swabs.

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1898C>A (p.S633Ter)

      Variant1ClinVarID: 1068474

      Variant1CAID: CA355966009

      Variant2: c.298A>G (p.R100G)

      Variant2ClinVarID: 2058952

      Variant2CAID: CA2801159

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1068474 CAID:CA355966009 ClinVarID:2058952 CAID:CA2801159 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10387444/