Kuhara, Tomiko Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics. [electronic resource] - Analytical biochemistry 09 2020 - 113739 p. digital Publication Type: Journal Article ISSN: 1096-0309 Standard No.: 10.1016/j.ab.2020.113739 doi Subjects--Topical Terms: Biomarkers--urineEpilepsy--diagnosisHumansInfant, NewbornL-Aminoadipate-Semialdehyde Dehydrogenase--deficiencyLysine--metabolismMetabolomicsMutationPipecolic Acids--urine