9 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis
    1
    1. ClingenBaseline 21 Oct 2026
      11

      Case#: Infant #11, female.

      DiseaseAssertion: MPS-I

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.80 IDUA enzyme activity (Ref. 5.9–27.8 μmol/g protein/h)

      CaseUrineGAGs: DMB/Cre. Ratio - 239.25, DS - 296.10, HS - 33.55, KS - 1.37 GAG quantifications (DMB/Cre ratio) and the normal reference values based on the age groups: <6 mos: <70.68 mg /mmol cre.; 6 mos–2 yrs: <46.80 mg /mmol cre.; 2–17 yrs: <20.98 mg /mmol cre.; and >18 yrs: <12.62 mg /mmol cre. Quantitative analyses of GAG-derived disaccharides (DS, S, or KS) by tandem mass spectrometry assay. The normal cut-off values: DS < 0.80 μg/mL; HS < 0.78 μg/mL; and KS < 7.90 μg/mL.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1037T>G (p.L346R)

      Variant1ClinVarID: 11927

      Variant1CAID: CA256128

      Variant2: c.1091C>T (p.T364M) Article has (p.364M) which appears to be a typo.

      Variant2ClinVarID: 11925

      Variant2CAID: CA256126

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11927 CAID:CA256128 ClinVarID:11925 CAID:CA256126 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8465393/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC3115308/
  4. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations
    6
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2004.00374.x