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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study
    1
    1. ClingenBaseline 23 Oct 2026
      1

      Patient1: Male, 0.1mo at ERT start, 33mo at study end

      CasePresentingHPOs:

      HPOsFreeText: treated with 20mg/kg/2wk, patient had 18 infusion associated reactions

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.3:c.1460T>C

      CAID: CA401366851, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401366851

      gnomAD: n/a

      Individual CaseInfo Variant CA401366851 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1007/s10545-015-9912-y