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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Military Health Department, Ministry of Defance, Serbia
2017-01-01
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| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2017/0042-84501600244J.pdf |