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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Detalles Bibliográficos
Autores principales: Boehm, Thomas, Hubmann, Holger, Petroczi, Karin, Mathis, Déborah, Klavins, Kristaps, Fauler, Guenter, Plecko, Barbara, Struys, Eduard, Jilma, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7384183/
https://www.ncbi.nlm.nih.gov/pubmed/31930735
http://dx.doi.org/10.1002/jimd.12214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7384183/
https://www.ncbi.nlm.nih.gov/pubmed/31930735
http://dx.doi.org/10.1002/jimd.12214

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