The measurement of urinary Δ(1)-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

The assessment of urinary α-aminoadipic semialdehyde (α-AASA) has become the diagnostic laboratory test for pyridoxine dependent seizures (PDS). α-AASA is in spontaneous equilibrium with its cyclic form Δ(1)-piperideine-6-carboxylate (P6C); a molecule with a heterocyclic ring structure. Ongoing diag...

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Main Authors: Struys, Eduard A., Bok, Levinus A., Emal, Dina, Houterman, Saskia, Willemsen, Michel A., Jakobs, Cornelis
格式: Artigo
語言:Inglês
出版: Springer Netherlands 2012
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Original Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3432202/
https://ncbi.nlm.nih.gov/pubmed/22249334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9443-0
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