2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
    1
    1. ClingenBaseline 24 Oct 2026
      10 MPS I patients

      Case#: MPS 1 patient

      DiseaseAssertion: N/A

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1139A>G (p.Q380R)

      Variant1ClinVarID: 550779

      Variant1CAID: CA2802202

      Variant2: c.1139A>G (p.Q380R)

      Variant2ClinVarID: 550779

      Variant2CAID: CA2802202

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550779 CAID:CA2802202 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/19954743/
  3. www.sciencedirect.com www.sciencedirect.com
    Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia
    1
    1. ClingenBaseline 22 Oct 2026
      5/F

      Case#: Patient 5, female, Russian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Severe intellectual disability, corneal clouding, skeletal deformities, hepatosplenomegaly (HP:0010864, HP:0007957, HP:0000924, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.7 nmol/mg/h (reference range 135 ± 57 nmol/mg/h)

      CaseUrineGAGs: 27.57 mg GAG/mmol/creatinine (reference range 6.17 ± 3.79 mg GAG/mmol creatinine)

      CaseERT: No

      CaseBMT: No

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1139A>G (p.Q380R)

      Variant2ClinVarID: 550779

      Variant2CAID: CA2802202

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:550779 CAID:CA2802202 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    sciencedirect.com/science/article/pii/S0009898114002204