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    Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
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    1. ClingenBaseline 24 Oct 2026

      Case7: Female, 58 years report

      HPOsFreeText: 9 years of ERT completed, Forced Vital Capacity at 14%

      GenotypingMethod: GAA Gene Sequencing

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

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2041-1G>A

      CAID: CA8815596 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2041-1G%3EA

      gnomAD: European (Non-Finnish) 1.012e-5, Overall 4.541e-6 http://gnomad.broadinstitute.org/variant/17-78087016-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 CA8815596 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5096052/