PNPO gene

Known as: PNPO, PYRIDOXAMINE-PHOSPHATE OXIDASE, PDXPO 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1998-2016
051019982016

Papers overview

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2014
2014
OBJECTIVE To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and… (More)
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2014
2014
The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not… (More)
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2014
2014
According to the Frank-Starling relationship, ventricular pressure or stroke volume increases with end-diastolic volume. This is… (More)
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2008
2008
The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal… (More)
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2008
2008
We present a patient with severe pyridox(am)ine 5'-phosphate oxidase deficiency and homozygosity for a novel nonsense-mutation, p… (More)
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2008
2008
Our aim was to establish reference values for cerebrospinal fluid (CSF) pyridoxal 5'-phosphate (PLP) in a paediatric population… (More)
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2007
2007
Accumulating evidence suggests that both homocysteine metabolism and monoaminergic neurotransmitter systems are important in… (More)
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2006
2006
Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to… (More)
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Highly Cited
2005
Highly Cited
2005
In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure… (More)
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1998
1998
Major differences in the metabolism of vitamin B6 in various cancers compared to their normal cellular counterparts have been… (More)
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