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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Bibliografische gegevens
Gepubliceerd in:J Inherit Metab Dis
Hoofdauteurs: Boehm, Thomas, Hubmann, Holger, Petroczi, Karin, Mathis, Déborah, Klavins, Kristaps, Fauler, Guenter, Plecko, Barbara, Struys, Eduard, Jilma, Bernd
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley & Sons, Inc. 2020
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Original Articles
Online toegang: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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