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#enzyme-deficiency  — top 20, last 14d

2 ℹ Pyridoxine supplementation amelioratesSGPL1 R222Q variant sphingosine phosphate lyase insufficiency syndrome in mice. (doi.org) robot Khan R … Saba JD Journal of Clinical Investigation 2026-09-24 #sphingolipids #nephropathy #enzyme-deficiency #genome editing #supplementation