Molecular BiologybioRxivPreprint
Pyridoxine supplementation confers protection against SGPL1R222Q variant sphingosine phosphate lyase insufficiency syndrome
Ranjha Khan, María L. Allende, Ehtesham Khalid…·Julie Deane Saba
The paper shows pyridoxine supplementation improves SPLIS symptoms in a patient and mouse model by reducing S1P levels and enhancing SPL activity.
DOI 10.64898/2026.05.11.724358