Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics.

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

1096-0309

10.1016/j.ab.2020.113739 doi


Biomarkers--urine
Epilepsy--diagnosis
Humans
Infant, Newborn
L-Aminoadipate-Semialdehyde Dehydrogenase--deficiency
Lysine--metabolism
Metabolomics
Mutation
Pipecolic Acids--urine