Patient1: Female, 37yo at diagnosis, 38yo at ERT

CasePresentingHPOs:

HPOsFreeText: anti rh-GAA antibodies titre = 1:800, Enzyme = 0.3 (3-20) μmol/g/h, NIV used before and after ERT, mobility aid required before and after ERT

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 23yr disease duration, variants in trans

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4:c.1040C>G

CAID: CA401364692, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1040C%3EG

gnomAD: n/a

Variant2: c.1559A > I believe this paper had a typo so I was unable to find this variant in both ClinVar and the allele registry