Citations for
1NEE, PNPO
Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site.
Ghatge MS, Karve SS, David TM, Ahmed MH, Musayev FN, Cunningham K, Schirch V, Safo MK.
FEBS Open Bio 6(5):398-408. doi: 10.1002/2211-5463.12042. 2016
2NEE, PNPO
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT.
Mol Genet Metab Rep 6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. 2016
3NEE, PNPO
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
Hatch J, Coman D, Clayton P, Mills P, Calvert S, Webster RI, Riney K.
JIMD Rep 26:91-7. doi: 10.1007/8904_2015_482. 2016
4NEE, PNPO
Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, Shotelersuk V.
Genet Mol Res 14(4):14130-5. doi: 10.4238/2015.October.29.34. 2015
5NEE, PNPO
Long-term outcome in pyridoxine-responsive infantile epilepsy.
Riikonen R, Mankinen K, Gaily E.
Eur J Paediatr Neurol 19(6):647-51. doi: 10.1016/j.ejpn.2015.08.001. 2015
6NEE, PNPO
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
Levtova A, Camuzeaux S, Laberge AM, Allard P, Brunel-Guitton C, Diadori P, Rossignol E, Hyland K, Clayton PT, Mills PB, Mitchell GA.
JIMD Rep 22:67-75. doi: 10.1007/8904_2015_413. 2015
7NEE, PNPO
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.
Sudarsanam A, Singh H, Wilcken B, Stormon M, Arbuckle S, Schmitt B, Clayton P, Earl J, Webster R.
JIMD Rep 17:67-70. doi: 10.1007/8904_2014_338. 2014
8PNPO
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
Goyal M, Fequiere PR, McGrath TM, Hyland K.
Pediatr Neurol 48(3):227-31. doi: 10.1016/j.pediatrneurol.2012.11.006. 2013
9NEE, PNPO
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Veerapandiyan A, Winchester SA, Gallentine WB, Smith EC, Kansagra S, Hyland K, Mikati MA.
Epilepsy Behav 20(3):494-501. doi: 10.1016/j.yebeh.2010.12.046. Review. 2011
10NEE, PNPO
Vitamin B6 dependent seizures.
Plecko B, Stöckler S.
Can J Neurol Sci 36 Suppl 2:S73-7. Review. 2009
11PNPO
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.
Ormazabal A, Oppenheim M, Serrano M, Garc’a-Cazorla A, Campistol J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S, Artuch R.
Mol Genet Metab 94(2):173-7. Epub 2008 Feb 21. 2008
12NEE, PNPO
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Ben Elisha M, Wevers RA, Falik-Zaccai TC.
Mol Genet Metab 94(4):431-4. Epub 2008 May 15. 2008
13PNPO
Association between PNPO and schizophrenia in the Japanese population.
Song H, Ueno S, Numata S, Iga J, Shibuya-Tayoshi S, Nakataki M, Tayoshi S, Yamauchi K, Sumitani S, Tomotake T, Tada T, Tanahashi T, Itakura M, Ohmori T.
Schizophr Res 97(1-3):264-70. Epub 2007 Sep 12. 2007
14PNPO, NEE
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT.
Hum Mol Genet 14(8):1077-86. Epub 2005 Mar 16. 2005
15PNPO, NEE
Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase.
Kang JH, Hong ML, Kim DW, Park J, Kang TC, Won MH, Baek NI, Moon BJ, Choi SY, Kwon OS.
Eur J Biochem 271(12):2452-61. 2004
16PNPO
Structure and properties of recombinant human pyridoxine 5'-phosphate oxidase.
Musayev FN, Di Salvo ML, Ko TP, Schirch V, Safo MK.
Protein Sci 12(7):1455-63. 2003