Determination of urinary alpha-aminoadipic semialdehyde by LC–MS/MS in patients with congenital metabolic diseases-Reference-Cited by-同舟云学术

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Determination of urinary alpha-aminoadipic semialdehyde by LC–MS/MS in patients with congenital metabolic diseases

Published:2014-01 Issue: Volume:944 Page:141-143
ISSN:1570-0232
Container-title:Journal of Chromatography B
language:en
Short-container-title:Journal of Chromatography B

Author:

Ferrer-López Isaac,Ruiz-Sala Pedro,Merinero Begoña,Pérez-Cerdá Celia,Ugarte Magdalena

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Biochemistry,General Medicine,Analytical Chemistry

Reference9 articles.

1. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

2. 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

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

4. α-Aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by α-aminoadipic semialdehyde dehydrogenase deficiency

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evaluating the suitability of 6-oxo-PIP as a novel biomarker for pyridoxine-dependent epilepsy in multiple samples;2024-01-16

2. 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;Journal of Inherited Metabolic Disease;2020-01-29

3. Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology;Bioanalysis;2020-01

4. The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy;Frontiers in Pediatrics;2019-08-26

5. Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy;Scientific Reports;2019-08-06

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