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    The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening
    2
    1. ClingenBaseline 21 Oct 2026
      220.493 (6.3)1.8DS 5.8homozygous PD: c.235G>A; p.A79TNormal examinationHS 6.5homozygous PD: c.296C>T; p.T99I

      Case#:Patient Sample unique ID 22, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:None

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.493 (6.3) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 1.8 pmol/punch/h Confirmatory IDUA enzyme measured at follow-up appointment

      CaseUrineGAGs: DS 5.8 g/mol creatinine and HS 6.5 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:homozygous PD: c.235G>A; p.A79T (Normal examination)

      Variant1ClinVarID:41682

      Variant1CAID: CA000358

      Variant2: homozygous PD: c.296C>T; p.T99I

      Variant2ClinVarID:53610

      Variant2CAID:CA326991

      AdditionalVariants:None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      ClinVarID:41682 CAID:CA000358 ClinVarID:53610 CAID:CA326991 DiseaseEntity:Unknown inferred_gene_hgnc:9588 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      370.629 (7.5)13.9DS 3.4heterozygous PD: c.235G>A; p.A79TNormal examinationHS 2.7heterozygous PD: c.246C>G; p.H82Q

      Case#:Patient Sample unique ID 37, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:None

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.629 (13.9) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 13.9 pmol/punch/h Confirmatory IDUA enzyme

      CaseUrineGAGs: DS 3.4 g/mol creatinine and HS 2.7 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:homozygous PD: c.235G>A; p.A79T (Normal examination)

      Variant1ClinVarID:41682

      Variant1CAID: CA000358

      Variant2:heterozygous PD: c.246C>G; p.H82Q

      Variant2ClinVarID:92637

      Variant2CAID:CA220506

      AdditionalVariants: None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      ClinVarID:41682 CAID:CA000358 ClinVarID:92637 CAID:CA220506 DiseaseEntity:Unknown inferred_gene_hgnc:9588 inferred_gene_source:CAID IDUA variant annotation
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