3 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years
    3
    1. ClingenBaseline 06 Nov 2026
      6

      Patient6: Male, 36yo at diagnosis, 40yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = neg, enzyme (μmol/g/h) = 1.2 (2-10)

      CaseNotHPOs:

      NotHPOsFreeText: NIV and mobility aid not used

      CaseAddInfo: 11yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1437G>A (p.Lys479=)

      ClinVar: 188044, https://www.ncbi.nlm.nih.gov/clinvar/variation/188044/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:188044 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      15

      Patient15: Female, 48yo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:1600, enzyme (μmol/g/h) = 0.48 (3-20), NIV required only after ERT

      CaseNotHPOs:

      NotHPOsFreeText: mobility aid not required

      CaseAddInfo: 33yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1437G>A (p.Lys479=)

      ClinVar: 188044, https://www.ncbi.nlm.nih.gov/clinvar/variation/188044/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:188044 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      4

      Patient 4: Male, 37yo at diagnosis, 41yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = neg, enzyme (μmol/g/h) = 2.1 (3-20), mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText: NIV not used

      CaseAddInfo: 10yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1437G>A (p.Lys479=)

      ClinVar: 188044, https://www.ncbi.nlm.nih.gov/clinvar/variation/188044/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:188044 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719216300129