Detalhe da pesquisa
1.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239721
2.
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Biochim Biophys Acta Mol Basis Dis
; 1866(3): 165607, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31759955