2 Matching Annotations
  1. Oct 2026
  2. www.sciencedirect.com www.sciencedirect.com
    Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System
    1
    1. ClingenBaseline 25 Oct 2026
      5/m

      Case#: Patient 5, male, 17.5 months (age at diagnosis), 21.5 months (age at HSCT), 5 MRI + neuropsychological observations over the course of 10 years.

      DiseaseAssertion: MPS-1H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 37.2 nmol/h/mg (Normal values: 11-43 nmol/h/mg)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: Yes

      Variant1: c.1166_1171dup (p.A389_M390dup)

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586965963

      Variant2: c.1166_1171dup (p.A389_M390dup)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586965963

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA2586965963 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347621008945
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    1
    1. ClingenBaseline 24 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 31, Italy

      DiseaseAssertion: MPS1-H

      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.1166_1171dup

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586965963

      Variant2: c.1166_1171dup

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586965963

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 CAID:CA2586965963 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/21394825/