TY  - GEN
AU  - Kuhara,Tomiko
AU  - Akiyama,Tomoyuki
AU  - Ohse,Morimasa
AU  - Koike,Takayoshi
AU  - Shibasaki,Jun
AU  - Imai,Katsumi
AU  - Cooper,ArthurJ L
TI  - Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics
SN  - 1096-0309
PY  - 2021///0205
KW  - Biomarkers
KW  - urine
KW  - Epilepsy
KW  - diagnosis
KW  - Humans
KW  - Infant, Newborn
KW  - L-Aminoadipate-Semialdehyde Dehydrogenase
KW  - deficiency
KW  - Lysine
KW  - metabolism
KW  - Metabolomics
KW  - Mutation
KW  - Pipecolic Acids
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ab.2020.113739
ER  -