Case2: Male, 46 years onset, 46 years diagnosis, 71 years report, France

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

HPOsFreeText: Lost ambulation at 66 years, Started invasive ventilation at 47 years, Started ERT given every other week at a dose of 20 mg/kg at 66 years for 54 months, Peak Anti-rhGAA antibodies at 1:51,200, FVC at 0.63/16 (L / % expected), MIP at 28 (cm H2O), MEP at 33 (cm H2O), Time off ventilation decreased from 240 to 120 (min/24 h), Total Motor Function Measure from 41 to 44, 6MWT from 20 to 100 meters

CaseNotHPOs: HP:0030148 (Heart murmur)

NotHPOsFreeText: No adverse reaction to ERT was recorded

CaseAddInfo: Late Onset Pompe Disease, Patient died before publication