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Pyridoxine‐dependent seizures in Dutch patients: diagnosis by elevated urinary alpha‐aminoadipic semialdehyde levels
BACKGROUND: Pyridoxine‐dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both α‐AASA and pipecolic acid (PA) in body fluids. METHODS:...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2083882/ https://ncbi.nlm.nih.gov/pubmed/17088338 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.2006.103192 |
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