Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency

Antiquitin (ATQ) deficiency leads to tissue, plasma, and urinary accumulation of alpha‐aminoadipic semialdehyde (AASA) and its Schiff base delta‐1‐piperideine‐6‐carboxylate (P6C). Although genetic testing of ALDH7A1 is the most definitive diagnostic method, quantifications of pathognomonic metabolit...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Boehm, Thomas, Hubmann, Holger, Petroczi, Karin, Mathis, Déborah, Klavins, Kristaps, Fauler, Guenter, Plecko, Barbara, Struys, Eduard, Jilma, Bernd
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7384183/
https://ncbi.nlm.nih.gov/pubmed/31930735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12214
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