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  1. Last 7 days
  2. link.springer.com link.springer.com
    Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
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    link.springer.com/article/10.1007/s10545-018-0243-7
  3. www.sciencedirect.com www.sciencedirect.com
    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
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    1. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient13: 6yo

      CasePresentingHPOs:

      HPOsFreeText: rhGAA dosage = 20 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 37mo 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.1781G>A

      CAID: CA8815477, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8815477

      gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78086403-G-A

      Individual CaseInfo Variant ClinVarID:4029 CA8815477 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423