Waters PJ - Search Results

1

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.

Pfeffer G, Waters PJ, Maguire J, Vallance HD, Wong VA, Mezei MM. Pfeffer G, et al. Among authors: waters pj. Can J Neurol Sci. 2012 Jul;39(4):520-4. doi: 10.1017/s0317167100014062. Can J Neurol Sci. 2012. PMID: 22728862

2

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Alfadhel M, et al. Among authors: waters pj. Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21412973 Review.

3

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.

4

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

Coulter-Mackie MB, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance H. Coulter-Mackie MB, et al. Among authors: waters pj. Clin Biochem. 2008 May;41(7-8):598-602. doi: 10.1016/j.clinbiochem.2008.01.018. Epub 2008 Feb 7. Clin Biochem. 2008. PMID: 18282470

5

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.

Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S. Andrade J, et al. Among authors: waters pj. Clin J Am Soc Nephrol. 2008 Jan;3(1):139-45. doi: 10.2215/CJN.02490607. Epub 2007 Nov 14. Clin J Am Soc Nephrol. 2008. PMID: 18003767 Free PMC article. Clinical Trial.

6

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

7

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

Waters PJ, Khashu M, Lillquist Y, Senger C, Mattman A, Demos M, Setchell K, Rupar A, Scott P, Blau N, Vallance HD. Waters PJ, et al. Mol Genet Metab. 2005 Dec;86 Suppl 1:S148-52. doi: 10.1016/j.ymgme.2005.07.032. Epub 2005 Sep 21. Mol Genet Metab. 2005. PMID: 16182582

8

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.

Al-Thihli K, Ebrahim H, Hughes DA, Patel M, Tipple M, Salvarinova R, Gardiner J, Vallance H, Waters PJ. Al-Thihli K, et al. Among authors: waters pj. Gene. 2012 Apr 15;497(2):320-2. doi: 10.1016/j.gene.2012.01.056. Epub 2012 Jan 31. Gene. 2012. PMID: 22336178

9

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Horvath GA, Davidson AG, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Horvath GA, et al. Among authors: waters pj. Can J Public Health. 2008 Jul-Aug;99(4):276-80. doi: 10.1007/BF03403754. Can J Public Health. 2008. PMID: 18767270 Free PMC article.

10

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N. Makhseed N, et al. Among authors: waters pj. J Inherit Metab Dis. 2004;27(6):778-80. doi: 10.1023/b:boli.0000045837.23328.f4. J Inherit Metab Dis. 2004. PMID: 15617188

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