Vallance H - Search Results

1

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

Sinclair G, McMahon V, Schellenberg A, Nelson TN, Chilvers M, Vallance H. Sinclair G, et al. Among authors: vallance h. Int J Neonatal Screen. 2020 Jun 2;6(2):46. doi: 10.3390/ijns6020046. eCollection 2020 Jun. Int J Neonatal Screen. 2020. PMID: 33073036 Free PMC article.

2

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE. Greenberg CR, et al. Mol Genet Metab. 2009 Apr;96(4):201-7. doi: 10.1016/j.ymgme.2008.12.018. Epub 2009 Feb 13. Mol Genet Metab. 2009. PMID: 19217814

3

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.

Collins SA, Sinclair G, McIntosh S, Bamforth F, Thompson R, Sobol I, Osborne G, Corriveau A, Santos M, Hanley B, Greenberg CR, Vallance H, Arbour L. Collins SA, et al. Among authors: vallance h. Mol Genet Metab. 2010 Oct-Nov;101(2-3):200-4. doi: 10.1016/j.ymgme.2010.07.013. Epub 2010 Jul 24. Mol Genet Metab. 2010. PMID: 20696606

4

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. 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.

5

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.

Sinclair GB, Collins S, Popescu O, McFadden D, Arbour L, Vallance HD. Sinclair GB, et al. Pediatrics. 2012 Nov;130(5):e1162-9. doi: 10.1542/peds.2011-2924. Epub 2012 Oct 22. Pediatrics. 2012. PMID: 23090344

6

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.

Al-Thihli K, Sinclair G, Sirrs S, Mezei M, Nelson J, Vallance H. Al-Thihli K, et al. Among authors: vallance h. J Inherit Metab Dis. 2014 Mar;37(2):207-13. doi: 10.1007/s10545-012-9578-7. Epub 2013 Jan 8. J Inherit Metab Dis. 2014. PMID: 23296367

7

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Among authors: vallance hd. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.

8

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency.

Schroder TH, Mattman A, Sinclair G, Vallance HD, Lamers Y. Schroder TH, et al. Among authors: vallance hd. Clin Biochem. 2016 Sep;49(13-14):973-8. doi: 10.1016/j.clinbiochem.2016.03.007. Epub 2016 Apr 15. Clin Biochem. 2016. PMID: 27040901

9

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.

Sinclair GB, van Karnebeek CDM, Ester M, Boyd F, Nelson T, Stockler-Ipsiroglu S, Vallance H. Sinclair GB, et al. Among authors: vallance h. Mol Genet Metab. 2016 Jul;118(3):173-177. doi: 10.1016/j.ymgme.2016.05.002. Epub 2016 May 7. Mol Genet Metab. 2016. PMID: 27233226

10

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Tarailo-Graovac M, et al. Among authors: vallance h. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.

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