Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy
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Title
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy
Authors
Keywords
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Journal
Scientific Reports
Volume 9, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-08-06
DOI
10.1038/s41598-019-47882-2
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Related references
Note: Only part of the references are listed.- Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
- (2019) Michael F. Wempe et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
- (2019) Curtis R. Coughlin et al. JOURNAL OF INHERITED METABOLIC DISEASE
- New insights into human lysine degradation pathways with relevance to pyridoxine dependent epilepsy due to antiquitin deficiency
- (2019) Lisa M. Crowther et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS
- (2018) Elizabeth Mary Mathew et al. International Journal of Analytical Chemistry
- A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine
- (2016) Tatiana Yuzyuk et al. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
- Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy
- (2016) Tatiana Yuzyuk et al. MOLECULAR GENETICS AND METABOLISM
- Simultaneous detection of lysine metabolites by a single LC–MS/MS method: monitoring lysine degradation in mouse plasma
- (2016) Izabella A. Pena et al. SpringerPlus
- A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients
- (2015) Jiao Xue et al. EPILEPSY RESEARCH
- Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
- (2015) Curtis R. Coughlin et al. MOLECULAR GENETICS AND METABOLISM
- Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy
- (2013) Laura A. Jansen et al. ANNALS OF NEUROLOGY
- Determination of urinary alpha-aminoadipic semialdehyde by LC–MS/MS in patients with congenital metabolic diseases
- (2013) Isaac Ferrer-López et al. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
- Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS
- (2013) Sunhee Jung et al. MOLECULAR GENETICS AND METABOLISM
- Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations
- (2013) Saadet Mercimek-Mahmutoglu et al. MOLECULAR GENETICS AND METABOLISM
- Pyridoxine dependent epilepsy and antiquitin deficiency
- (2011) Sylvia Stockler et al. MOLECULAR GENETICS AND METABOLISM
- 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
- (2009) Katerina Sadilkova et al. JOURNAL OF NEUROSCIENCE METHODS
- Prevalence ofALDH7A1mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
- (2008) Craig L. Bennett et al. EPILEPSIA
- Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
- (2008) Gregory J. Basura et al. EUROPEAN JOURNAL OF PEDIATRICS
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