3 Matching Annotations
  1. Last 7 days
  2. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
    2
    1. ClingenBaseline 21 Oct 2026
      P17

      Patient17: Male, 81yo

      CasePresentingHPOs: HP:0003077, HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 6yr disease duration, ERT lasted 37mo

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.925G>A (p.Gly309Arg)

      ClinVar: 188797, https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/

      gnomAD: 0.00002860, http://gnomad.broadinstitute.org/variant/17-78081665-G-A

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:188797 inferred_gene_hgnc:2343 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 21 Oct 2026
      P9

      Patient9: Male, 64yo

      CasePresentingHPOs: HP:0000822, HP:0000819, HP:0001513

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 11yr disease duration, ERT lasted 14mo

      CasePMIDs: PMID: 25614309

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.925G>A (p.Gly309Arg)

      ClinVar: 188797, https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/

      gnomAD: 0.00002860, http://gnomad.broadinstitute.org/variant/17-78081665-G-A

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:188797 inferred_gene_hgnc:2343 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6
  3. www.nature.com www.nature.com
    Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
    1
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    nature.com/articles/gim20182