Waters PJ - Search Results

1

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: waters pj. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

2

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. Rosenberg EH, et al. Among authors: waters pj. Mol Genet Metab. 2009 Aug;97(4):312-4. doi: 10.1016/j.ymgme.2009.05.002. Epub 2009 May 13. Mol Genet Metab. 2009. PMID: 19501531

3

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Mercimek-Mahmutoglu S, et al. Among authors: waters pj. Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23. Pediatrics. 2012. PMID: 22529283

4

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB. Demos MK, et al. Among authors: waters pj. Ann Neurol. 2005 Jul;58(1):164-7. doi: 10.1002/ana.20532. Ann Neurol. 2005. PMID: 15984017

5

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Li A, Lian Q, Struys E, Stockler S, Waters PJ. Coulter-Mackie MB, et al. Among authors: waters pj. Mol Genet Metab. 2012 Aug;106(4):478-81. doi: 10.1016/j.ymgme.2012.06.008. Epub 2012 Jun 22. Mol Genet Metab. 2012. PMID: 22784480

6

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA. Mills PB, et al. Among authors: waters pj. J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9. J Inherit Metab Dis. 2012. PMID: 22403017

7

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S. Alfadhel M, et al. Among authors: waters pj. Can J Neurol Sci. 2012 Jul;39(4):516-9. doi: 10.1017/s0317167100014050. Can J Neurol Sci. 2012. PMID: 22728861

8

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

Van Karnebeek CD, Waters PJ, Sargent MA, Mezei MM, Wong LJ, Wang J, Stöckler-Ipsiroglu S. Van Karnebeek CD, et al. Among authors: waters pj. Dev Med Child Neurol. 2011 Jun;53(6):565-8. doi: 10.1111/j.1469-8749.2010.03907.x. Epub 2011 Apr 19. Dev Med Child Neurol. 2011. PMID: 21518340 Free article.

9

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. Horvath GA, et al. Among authors: waters pj. Mol Genet Metab. 2008 May;94(1):127-31. doi: 10.1016/j.ymgme.2008.01.003. Epub 2008 Feb 13. Mol Genet Metab. 2008. PMID: 18276179

10

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.

Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG. Horvath GA, et al. Among authors: waters pj. Cephalalgia. 2011 Nov;31(15):1580-6. doi: 10.1177/0333102411420584. Epub 2011 Oct 19. Cephalalgia. 2011. PMID: 22013141

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