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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
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    1. ClingenBaseline 24 Oct 2026
      25

      Patient25: Male, 15 years report, 2 years onset

      CasePresentingHPOs: HP:0002527 (Falls)

      HPOsFreeText: GAA activity 5.6% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0001324, HP:0001640, HP:0002240 (Respiratory distress, Muscle weakness, Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:370637 CA502166333 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/