Similar articles for PMID: 29548777

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1

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Mol Genet Metab. 2018 Dec;125(4):359. doi: 10.1016/j.ymgme.2018.02.017. Epub 2018 Mar 14. Mol Genet Metab. 2018. PMID: 29548777 No abstract available.

2

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Mol Genet Metab. 2017 Sep;122(1-2):135-142. doi: 10.1016/j.ymgme.2017.08.003. Epub 2017 Aug 12. Mol Genet Metab. 2017. PMID: 28818555

3

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Data Brief. 2017 Oct 28;15:868-875. doi: 10.1016/j.dib.2017.10.032. eCollection 2017 Dec. Data Brief. 2017. PMID: 29379851 Free PMC article.

4

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G. Schmitt B, et al. Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29. Dev Med Child Neurol. 2010. PMID: 20370816 Free article.

5

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

Ware TL, Earl J, Salomons GS, Struys EA, Peters HL, Howell KB, Pitt JJ, Freeman JL. Ware TL, et al. Dev Med Child Neurol. 2014 May;56(5):498-502. doi: 10.1111/dmcn.12346. Epub 2013 Nov 23. Dev Med Child Neurol. 2014. PMID: 24266778 Free article.

6

Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.

Xue J, Chang X, Zhang Y, Yang Z. Xue J, et al. Metab Brain Dis. 2017 Aug;32(4):1081-1087. doi: 10.1007/s11011-017-9995-2. Epub 2017 Mar 27. Metab Brain Dis. 2017. PMID: 28349276

7

Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.

Zhang L, Zhou D, Guan W, Ren W, Sun W, Shi J, Lin Q, Zhang J, Qiao T, Ye Y, Wu Y, Zhang Y, Zuo X, Connor KL, Xu G. Zhang L, et al. Cell Death Dis. 2017 Dec 13;8(12):3214. doi: 10.1038/s41419-017-0050-3. Cell Death Dis. 2017. PMID: 29238081 Free PMC article.

8

Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.

Ngo EO, LePage GR, Thanassi JW, Meisler N, Nutter LM. Ngo EO, et al. Biochemistry. 1998 May 26;37(21):7741-8. doi: 10.1021/bi972983r. Biochemistry. 1998. PMID: 9601034

9

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Guerriero RM, Patel AA, Walsh B, Baumer FM, Shah AS, Peters JM, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Guerriero RM, et al. Pediatr Neurol. 2017 Nov;76:47-53. doi: 10.1016/j.pediatrneurol.2017.05.024. Epub 2017 Jun 3. Pediatr Neurol. 2017. PMID: 28985901 Free PMC article.

10

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. Kang JH, et al. Eur J Biochem. 2004 Jun;271(12):2452-61. doi: 10.1111/j.1432-1033.2004.04175.x. Eur J Biochem. 2004. PMID: 15182361 Free article.

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