Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 24

1.

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity.

Mujica-Coopman MF, Tan A, Schroder TH, Sinclair G, Vallance HD, Lamers Y.

J Nutr. 2019 Aug 30. pii: nxz178. doi: 10.1093/jn/nxz178. [Epub ahead of print]

PMID:
31504713
2.

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy.

Schroder TH, Tan A, Mattman A, Sinclair G, Barr SI, Vallance HD, Lamers Y.

Clin Chem Lab Med. 2019 May 14. pii: /j/cclm.ahead-of-print/cclm-2018-1337/cclm-2018-1337.xml. doi: 10.1515/cclm-2018-1337. [Epub ahead of print]

PMID:
31085739
3.

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.

Sharma MA, Lee JYJ, Tam A, Sattha B, Mackenzie IR, Vallance HD, Sirrs S, Hannah-Shmouni F, Côté HCF, Mattman A.

Mitochondrion. 2019 May;46:298-301. doi: 10.1016/j.mito.2018.08.002. Epub 2018 Aug 13.

PMID:
30114489
4.

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine.

Vallance HD, Koochin A, Branov J, Rosen-Heath A, Bosdet T, Wang Z, Hazen SL, Horvath G.

Mol Genet Metab Rep. 2018 May 3;15:130-133. doi: 10.1016/j.ymgmr.2018.04.005. eCollection 2018 Jun.

5.

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

Schroder TH, Sinclair G, Mattman A, Jung B, Barr SI, Vallance HD, Lamers Y.

Br J Nutr. 2017 Sep;118(6):454-462. doi: 10.1017/S0007114517002331. Epub 2017 Sep 18.

PMID:
28920568
6.

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.

Clin Biochem. 2016 Sep;49(13-14):973-8. doi: 10.1016/j.clinbiochem.2016.03.007. Epub 2016 Apr 15.

PMID:
27040901
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.

Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.

8.

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.

Pediatrics. 2012 Nov;130(5):e1162-9. doi: 10.1542/peds.2011-2924. Epub 2012 Oct 22.

PMID:
23090344
9.

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.

Pfeffer G, Waters PJ, Maguire J, Vallance HD, Wong VA, Mezei MM.

Can J Neurol Sci. 2012 Jul;39(4):520-4.

PMID:
22728862
10.

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.

Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Review.

PMID:
21412973
11.

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.

Mol Genet Metab. 2009 Apr;96(4):201-7. doi: 10.1016/j.ymgme.2008.12.018. Epub 2009 Feb 13.

PMID:
19217814
12.

Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?

Steinraths M, Vallance HD, Davidson AG.

Can Fam Physician. 2008 Jun;54(6):877-83.

13.

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.

Clin J Am Soc Nephrol. 2008 Jan;3(1):139-45. Epub 2007 Nov 14.

14.

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Leary SC, Mattman A, Wai T, Koehn DC, Clarke LA, Chan S, Lomax B, Eydoux P, Vallance HD, Shoubridge EA.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):129-33. Epub 2006 Jun 9.

PMID:
16765077
15.

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.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S148-52. Epub 2005 Sep 21.

PMID:
16182582
16.

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB.

Ann Neurol. 2005 Jul;58(1):164-7.

PMID:
15984017
17.

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.

J Inherit Metab Dis. 2004;27(6):778-80.

PMID:
15617188
18.

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

Vallance HD, Jeven G, Wallace DC, Brown MD.

Pediatr Cardiol. 2004 Sep-Oct;25(5):538-40. Epub 2004 May 28.

PMID:
15164143
19.

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, Law LK, Fung SL, Mak TW, Sung YM, Cheung KL, Fok TF.

Clin Biochem. 2003 Mar;36(2):145-9.

PMID:
12633764
20.

Novel point mutation (W184R) in neonatal type 2 Gaucher disease.

Choy FY, Wong K, Vallance HD, Baldwin V.

Pediatr Dev Pathol. 2000 Mar-Apr;3(2):180-3.

PMID:
10679038
21.

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.

Vallance HD, Bernard L, Rashed M, Chiu D, Le G, Toone J, Applegarth DA, Coulter-Mackie M.

Hum Mutat. 1999;13(4):338.

PMID:
10220152
22.

Early amniocentesis for biochemical genetic prenatal diagnosis.

Toone JR, Applegarth DA, Vallance HD, Wilson RD.

Lancet. 1998 Apr 18;351(9110):1207-8. No abstract available.

PMID:
9643719
23.

Are patients with homocystinuria being missed?

Applegarth DA, Vallance HD, Seccombe D.

Eur J Pediatr. 1995 Jul;154(7):589. No abstract available.

PMID:
7556330
24.

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes.

Vallance HD, Toone JR, Applegarth DA.

J Inherit Metab Dis. 1994;17(5):627-8. No abstract available.

PMID:
7837773

Supplemental Content

Loading ...
Support Center