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GPX (U/mg prot) =AT(ASCS)1000VEV(CprVSV)T=200ATASCpr Sample weight Unit definition: One unit of enzyme activity is defined as the amount of enzyme that catalyzes the oxidation of 1 nmol of GSH per minute in the reaction system, every gram of sample

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For comparison, we included fibroblasts from an unrelated healthy control (NHDF), a previously reported patient stably overexpressing wild-type PPCS (95595-T-PPCS) as negative controls, and two previously reported patients as positive controls: one with compound heterozygous variants (Ala180Pro and Pro107_Ala111del in 95595), and another with a homozygous Glu233Val variant (103596) 2 (Fig