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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      5 mg/kg (N = 3)

      Case2HPOsFreeText: 5 mg/kg GAA treatment, GAA activity at 6 pmol/punch/hr, GAA activity at 25% lower limit of normal

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo ClinVarID:4027 ClinVarID:370222 inferred_gene_hgnc:7881 inferred_gene_source:ClinVar GAA variant
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    Tags

    • CaseInfo
    • inferred_gene_source:ClinVar
    • ClinVarID:4027
    • inferred_gene_hgnc:7881
    • GAA variant
    • Individual
    • ClinVarID:370222

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5571484/
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