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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Childhood Pompe disease: clinical spectrum and genotype in 31 patients
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    1. ClingenBaseline 21 Oct 2026
      10

      Case10: Male, 2.5 yr onset, 3 yr diagnosis, 13 yr report

      CasePresentingHPOs: HP:0001371 (Contractures)

      HPOsFreeText: FVC z-score sitting -3.01 (66% pred), FVC z-score supine -4.09 (54% pred), 84% MRC Scale, 1960 CK U/l, 8.6 GAA activity (nmol/h/mg)^h from cultured fibroblasts

      NotHPOsFreeText: No wheelchair used, No respiratory support

      Individual CaseInfo ClinVarID:4027 ClinVarID:371281 inferred_gene_hgnc:25532 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC4870771/