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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Bibliografiske detaljer
Main Authors: Bok, Levinus A, Struys, Eduard, Willemsen, Michel A A P, Been, Jasper V, Jakobs, Cornelis
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2007
Fag:
Original Article
Online adgang: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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