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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 23 Oct 2026
      34

      Case#: Patient 34 (Table 3)

      DiseaseAssertion: Attenuated naïve MPS 1

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3 nmol/h/mg per DBS (dried blood spots) determined during NBS.

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.24C>A (p.Ser16_Ala19del)

      Variant1ClinVarID: 92638

      Variant1CAID: CA145878

      Variant2: c.793G>C (p.G265R)

      Variant2ClinVarID: 638074

      Variant2CAID: CA2802098

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:92638 CAID:CA145878 ClinVarID:638074 CAID:CA2802098 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10387444/