Case11HPOsFreeText: 20 mg/kg GAA treatment, GAA activity at 1.4 pmol/punch/hr, GAA activity at 33.2% lower limit of normal

CaseAddInfo: Late Onset Pompe Disease

CaseGenotypingMethod: Method not described, only that the diagnosis was "confirmed … based on 2 GAA gene mutations"

Variant1: NM_000152.4:c.1802C>A (p.Ser601Ter)

CAID: CA401369436 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1802C%3EA

gnomAD: Not in gnomAD

CaseAddInfo: Patient is homozygous for this variant