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    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
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    1. ClingenBaseline 21 Oct 2026
      Supplement Table 1)

      Patient11: 4yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 2mo at ERT start

      CasePMIDs:

      CasePreviousTesting: same a group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.872T>C

      CAID: CA401363854, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401363854

      gnomAD: n/a

      Variant2: NM_000152.3:c.1798C>T

      CAID: CA8815481, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8815481

      gnomAD: 8.669e-06, http://exac.broadinstitute.org/variant/17-78086420-C-T

      Individual CaseInfo Variant CA401363854 CA8815481 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423