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-Reference-Cited by-同舟云学术

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

Published:2020-01-29 Issue:4 Volume:43 Page:891-900
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Boehm Thomas¹^ORCID,Hubmann Holger²,Petroczi Karin¹,Mathis Déborah³,Klavins Kristaps⁴,Fauler Guenter⁵,Plecko Barbara²,Struys Eduard⁶,Jilma Bernd¹

Affiliation:

1. Department of Clinical Pharmacology Medical University of Vienna Vienna Austria

2. Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria

3. Department of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Zurich Switzerland

4. CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria

5. Clinical Institute of Medical and Chemical Laboratory Diagnostics Medical University of Graz Graz Austria

6. Department of Clinical Chemistry Amsterdam University Medical Centers, location VUmc Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12214

Reference29 articles.

1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures

2. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

3. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC–MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures

4. The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

5. Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy

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