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The Journal of Clinical Investigation|June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsyUdo Fh Engelke, Rianne E van Outersterp, Jona Merx, et al.Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSAndré B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.Pageof 2