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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 23 Oct 2026

      Case14: Female, 69 years report

      HPOsFreeText: 9 years of ERT completed, 6 Minute Walking Test at 200 meters, Forced Vital Capacity at 51%

      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.118C>T (p.Arg40Ter)

      ClinVar: 426593 https://www.ncbi.nlm.nih.gov/clinvar/variation/426593/

      gnomAD: South Asian 6.561e-5, Overall 1.428e-5 http://gnomad.broadinstitute.org/variant/17-78078503-C-T

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo GenotypingMethod Variant ClinVarID:4027 ClinVarID:426593 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5096052/