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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    High Precision Newborn Screening for Mucopolysaccharidosis Type I by Enzymatic Activity followed by Endogenous, Non-Reducing End Glycosaminoglycan Analysis
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    1. ClingenBaseline 22 Oct 2026

      Case#: CA-112 ID number, Table S1.1 of Supplementary Material. Male, 2 weeks old (age at first symptoms), 7 months old (age at diagnosis). Stored frozen (-20ºC) 16 yr

      DiseaseAssertion: Severe MPS-I

      FamilyInfo: N/A

      CasePresentingHPOs: Megalocornea, recurrent ear infections, hernia (groin), corneal clouding, joint stiffness (HP:0000485, HP:0410018, HP:0100790, HP:0007957, HP:0001387)

      CaseHPOFreeText: Aortic/mitra valve regurgitation

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: 1352 fmol/punch

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1861C>T (p.R621X)

      Variant1ClinVarID: 11917

      Variant1CAID: CA256118

      Variant2: c.1163C>G (p.T388R)

      Variant2ClinVarID: 496384

      Variant2CAID: CA91169370

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11917 CAID:CA256118 ClinVarID:496384 CAID:CA91169370 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12017804/