Patient3: Male, 1.2mo at ERT start, 5.5yo at study end

CasePresentingHPOs:

HPOsFreeText: treated with 20mg/kg/2wks, patient had 27 infusion associated reactions

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo:

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1933G>T (p.Asp645Tyr)

ClinVar: 556386, https://www.ncbi.nlm.nih.gov/clinvar/variation/556386/

gnomAD: 0.000008250, http://gnomad.broadinstitute.org/variant/17-78086719-G-T

Variant2: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

gnomAD: 0.00009959, http://gnomad.broadinstitute.org/variant/17-78078909-CT-C