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  2. www.sciencedirect.com www.sciencedirect.com
    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
    2
    1. ClingenBaseline 24 Oct 2026
      Supplement Table 1)

      Patient3: 4yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 14days old at ERT start, stopped albuterol during 4th month of trial

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.3:c.1197_1208del

      CAID: CA658795246, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795246

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 CA658795246 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient8: 2yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 16 days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2:NM_000152.3:c.1197_1208del

      CAID: CA658795246, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795246

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 CA658795246 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423