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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
    1
    1. ClingenBaseline 24 Oct 2026
      infant A

      Case#: Infant A

      DiseaseAssertion: MPSI

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: Newborn screening, dried blood spot, modification of method published by Chamoles et al, IDUA activity <9.03 umol/L blood*20 on initial and repeat testing.

      CaseUrineGAGs: Urinary GAG obtained as part of confirmatory testing but results are not presented.

      CaseERT: Don't know

      CaseBMT: Don't know

      Variant1: 303G > A (R105Q), paternal origin

      Variant1ClinVarID: 2020010

      Variant1CAID: CA2801866

      Variant2: c.484 G>A (R162K), maternal origin

      Variant2ClinVarID: 550594

      Variant2CAID: CA355961605

      AdditionalVariants:

      ParentalGenotype: c.303 G>A (paternal) / c.484 G>A (maternal)

      PreviouslyPublishedNo

      ClinVarID:2020010 ClinVarID:550594 CAID:CA2801866 Gene:IDUA HGNC:5391 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 Mutation:Germline Zygosity:CompoundHeterozygous CAID:CA355961605 inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3849552/