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The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
Pyridoxine-dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α-aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α-aminoadipic semialdehyde and piperideine-6-carboxylic acid. The latter reacts with pyr...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3112356/ https://ncbi.nlm.nih.gov/pubmed/20814824 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9187-2 |
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