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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-119 ID number, Table S1.1 of Supplementary Material. Male, at birth (age at first symptoms), 15 years and 6 months old (age at diagnosis). Stored frozen (-20ºC) 32 yr. May be the sibling of CA-120 due to closeness in ID numbers as well as having the same variants.

      DiseaseAssertion: Attenuated MPS-I

      FamilyInfo: N/A

      CasePresentingHPOs: Premature birth, hernia (3), ear infections, joint contractures (HP:0001622, HP:0100790, HP:0410018, HP:0002828)

      CaseHPOFreeText: Lung issues, hernia, spine heart (No additional information about these symptoms provided)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: 393 fmol/punch

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1651-7C>T

      Variant1ClinVarID: 1147380

      Variant1CAID: CA438057995

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 ClinVarID:1147380 CAID:CA438057995 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12017804/