First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants. PDE has been shown to be caused by a defect of a α-aminoadipic semialdehyde dehydrogenase (also known as ALDH7A1 or antiqu...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2017-01-01
|
| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2017/0042-84501600244J.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!