Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics

(2020) Tomiko Kuhara et al.   ANALYTICAL BIOCHEMISTRY

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

(2019) Michael F. Wempe et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Relation between pyridoxal and pyridoxal phosphate concentrations in plasma, red cells, and white cells in patients with critical illness

(2018) Aikaterini T Vasilaki et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

(2018) Devon L Johnstone et al.   BRAIN

Confirmation of mutations inPROSCas a novel cause of vitamin B6-dependent epilepsy

(2017) Barbara Plecko et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy

(2016) Niklas Darin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

(2016) Déborah Mathis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

(2014) P. B. Mills et al.   BRAIN

Seizures With Decreased Levels of Pyridoxal Phosphate in Cerebrospinal Fluid

(2013) Monisha Goyal et al.   PEDIATRIC NEUROLOGY

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

(2011) Emma J. Footitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

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

(2010) Philippa B. Mills et al.   BRAIN

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

Clinical Utility of Monoamine Neurotransmitter Metabolite Analysis in Cerebrospinal Fluid

(2008) K. Hyland   CLINICAL CHEMISTRY

PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism

(2008) Morad Khayat et al.   MOLECULAR GENETICS AND METABOLISM