PNPO gene

OBJECTIVE To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and… (More)

The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not… (More)

According to the Frank-Starling relationship, ventricular pressure or stroke volume increases with end-diastolic volume. This is… (More)

The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal… (More)

We present a patient with severe pyridox(am)ine 5'-phosphate oxidase deficiency and homozygosity for a novel nonsense-mutation, p… (More)

Our aim was to establish reference values for cerebrospinal fluid (CSF) pyridoxal 5'-phosphate (PLP) in a paediatric population… (More)

Accumulating evidence suggests that both homocysteine metabolism and monoaminergic neurotransmitter systems are important in… (More)

Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to… (More)

In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure… (More)

Major differences in the metabolism of vitamin B6 in various cancers compared to their normal cellular counterparts have been… (More)