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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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Detalles Bibliográficos
Autores principales:	Struys, Eduard A., Bok, Levinus A., Emal, Dina, Houterman, Saskia, Willemsen, Michel A., Jakobs, Cornelis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432202/ https://www.ncbi.nlm.nih.gov/pubmed/22249334 http://dx.doi.org/10.1007/s10545-011-9443-0

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