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

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

(2015) Monique Albersen et al.   PLoS One

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

(2014) P. B. Mills et al.   BRAIN

Pyridoxine responsiveness in novel mutations of the PNPO gene

(2014) B. Plecko et al.   NEUROLOGY

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

(2013) Tyson L Ware et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5′-Phosphate Oxidase Deficiency: A Case Report

(2013) Stephanie Porri et al.   NEUROPEDIATRICS

Seizures With Decreased Levels of Pyridoxal Phosphate in Cerebrospinal Fluid

(2013) Monisha Goyal et al.   PEDIATRIC NEUROLOGY

The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

(2013) Monique Albersen et al.   PLoS One

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method

(2012) Emma J. Footitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry

(2011) M. van der Ham et al.   ANALYTICA CHIMICA ACTA

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

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

Pyridoxal 5′-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients

(2008) Aida Ormazabal et al.   MOLECULAR GENETICS AND METABOLISM

PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism

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

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

(2007) Angeles Ruiz et al.   MOLECULAR GENETICS AND METABOLISM