Case27: Male, 5 yr onset, 5 yr diagnosis, 10.1 yr report

HPOsFreeText: FVC z-score sitting -1.38 (84% pred), FVC z-score supine -2.55 (71% pred), 774 CK U/l, 1.7 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, No respiratory support

Case26: Female, 4 yr onset, 4 yr diagnosis, 8.1 yr report

HPOsFreeText: FVC z-score sitting 0.01 (100% pred), FVC z-score supine -0.63 (92% pred), 98% MRC Scale, 572 CK U/l, 2.3 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, No respiratory support

Case5: Male, 14 years onset, 17 years diagnosis, 42 years report, France

CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887, HP:0011029 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation, Internal haemorrhage)

HPOsFreeText: Lost ambulation at 33 years, Started invasive ventilation at 19 years, Started ERT given every other week at a dose of 20 mg/kg at 41 years for 11 months, Peak Anti-rhGAA antibodies at 1:25,600, FVC at 0.31/6 (L / % expected), MIP at 1 (cm H2O), MEP at 2 (cm H2O), Time off ventilation stayed constant at 0, Total Motor Function Measure from 27 to 26, 6MWT at 0, Suffered from a tracheal haemorrhage

CaseNotHPOs: HP:0030148 (Heart murmur)

NotHPOsFreeText: No adverse reaction to ERT was recorded

CaseAddInfo: Late Onset Pompe Disease, Patient died before publication

CaseD: 17 years onset

CaseAddInfo: Late-Onset Pompe Disease