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    Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
    1
    1. ClingenBaseline 21 Oct 2026
      one newborn

      Case#: Patient 2, newborn, female, North African, from Morocco

      DiseaseAssertion: MPS-I H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.22 (Reference range not provided)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1598C>G (P533R)

      Variant1ClinVarID: 11910

      Variant1CAID: CA256112

      Variant2: c.1598C>G (P533R)

      Variant2ClinVarID: 11910

      Variant2CAID: CA256112

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11910 CAID:CA256112 NewbornScreening inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s10545-017-0098-3