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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

      Case20: Female, 63 years report

      HPOsFreeText: 9 years of ERT completed, 6 Minute Walking Test at 10 meters, Forced Vital Capacity at 57%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.1748C>T (p.Ser583Phe)

      CAID: CA401369174 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1748C%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.2014C>T (p.Arg672Trp)

      ClinVar: 188773 https://www.ncbi.nlm.nih.gov/clinvar/variation/188773/

      gnomAD: South Asian 3.355e-5, Overall 8.290e-6 http://gnomad.broadinstitute.org/variant/17-78086800-C-T

      CaseAddInfo: Late Onset Pompe Disease

      Individual GenotypingMethod Variant CaseInfo CA401369174 ClinVarID:188773 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5096052/