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32788630 | Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy. | 2020 Aug 12 |
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31261385 | Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster. | 2019 Sep 15 |
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28133863 | Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. | 2017 Mar |
1 |
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28779752 | Pyridoxine dependent epilepsies: new therapeutical point of view. | 2017 Aug 5 |
1 |
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28782931 | An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. | 2017 Sep 5 |
2 |
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28818555 | Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation. | 2017 Sep |
1 |
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29238081 | Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer. | 2017 Dec 13 |
2 |
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27419045 | Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site. | 2016 May |
1 |
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26535729 | Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. | 2015 Oct 30 |
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24266778 | Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. | 2014 May |
1 |
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24645144 | Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. | 2014 May |
4 |
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25256445 | Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. | 2014 |
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23419474 | Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. | 2013 Mar |
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20184790 | Neonatal vitamin-responsive epileptic encephalopathies. | 2010 Jan-Feb |
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20370816 | Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. | 2010 Jul |
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19759001 | Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder. | 2009 Nov 6 |
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18024216 | A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. | 2008 Feb |
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16538088 | Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. | 2006 Apr |
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12824491 | Structure and properties of recombinant human pyridoxine 5'-phosphate oxidase. | 2003 Jul |
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12111839 | Chronological changes in pyridoxine-5'-phosphate oxidase immunoreactivity in the seizure-sensitive gerbil hippocampus. | 2002 Jun 15 |
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708447 | Evidence for the regulation of pyridoxal 5-phosphate formation in liver by pyridoxamine (pyridoxine) 5 -phosphate oxidase. | 1978 Aug 14 |
1 |