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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 24 Oct 2026
      8

      Patient8: Female, 4.6mo at ERT start, 3.4yo at study end

      CasePresentingHPOs:

      HPOsFreeText: treated with 40mg/kg/wk ERT, patient had 5 infusion associated reactions

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.378_379del

      CAID: CA658795227, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795227

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.2104C>T (p.Arg702Cys)

      ClinVar: 189040, https://www.ncbi.nlm.nih.gov/clinvar/variation/189040/

      gnomAD: n/a

      Individual CaseInfo Variant CA658795227 ClinVarID:189040 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