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Items: 1 to 20 of 142

1.

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.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):200-4. doi: 10.1016/j.ymgme.2010.07.013. Epub 2010 Jul 24.

PMID:
20696606
2.

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.

3.

Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011.

Collins SA, Surmala P, Osborne G, Greenberg C, Bathory LW, Edmunds-Potvin S, Arbour L.

BMC Pediatr. 2012 Dec 12;12:190. doi: 10.1186/1471-2431-12-190.

4.

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.

Rajakumar C, Ban MR, Cao H, Young TK, Bjerregaard P, Hegele RA.

J Lipid Res. 2009 Jun;50(6):1223-8. doi: 10.1194/jlr.P900001-JLR200. Epub 2009 Jan 29.

5.

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
6.

Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

Gessner BD, Gillingham MB, Johnson MA, Richards CS, Lambert WE, Sesser D, Rien LC, Hermerath CA, Skeels MR, Birch S, Harding CO, Wood T, Koeller DM.

J Pediatr. 2011 Jan;158(1):124-9. doi: 10.1016/j.jpeds.2010.07.031. Epub 2010 Sep 16.

PMID:
20843525
7.

Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.

Fohner AE, Garrison NA, Austin MA, Burke W.

Genet Med. 2017 Jan 26. doi: 10.1038/gim.2016.202. [Epub ahead of print] Review.

PMID:
28125087
8.

Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.

Gessner BD, Gillingham MB, Birch S, Wood T, Koeller DM.

Pediatrics. 2010 Nov;126(5):945-51. doi: 10.1542/peds.2010-0687. Epub 2010 Oct 11.

PMID:
20937660
9.

Association of a genetic variant of carnitine palmitoyltransferase 1A with infections in Alaska Native children.

Gessner BD, Gillingham MB, Wood T, Koeller DM.

J Pediatr. 2013 Dec;163(6):1716-21. doi: 10.1016/j.jpeds.2013.07.010. Epub 2013 Aug 27.

PMID:
23992672
10.

Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation.

Park JY, Narayan SB, Bennett MJ.

Clin Chem Lab Med. 2006;44(9):1090-1.

PMID:
16958601
11.

Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos.

Lemas DJ, Wiener HW, O'Brien DM, Hopkins S, Stanhope KL, Havel PJ, Allison DB, Fernandez JR, Tiwari HK, Boyer BB.

J Lipid Res. 2012 Jan;53(1):175-84. doi: 10.1194/jlr.P018952. Epub 2011 Nov 1.

12.
13.

Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.

Gillingham MB, Hirschfeld M, Lowe S, Matern D, Shoemaker J, Lambert WE, Koeller DM.

Mol Genet Metab. 2011 Nov;104(3):261-4. doi: 10.1016/j.ymgme.2011.06.017. Epub 2011 Jun 28.

14.

Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.

Dykema DM.

Adv Neonatal Care. 2012 Feb;12(1):23-7. doi: 10.1097/ANC.0b013e318242df6d.

PMID:
22301540
15.

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

Zhou S, Xiong L, Xie P, Ambalavanan A, Bourassa CV, Dionne-Laporte A, Spiegelman D, Turcotte Gauthier M, Henrion E, Diallo O, Dion PA, Rouleau GA.

PLoS One. 2015 May 26;10(5):e0128255. doi: 10.1371/journal.pone.0128255. eCollection 2015.

16.

Assessing diet and lifestyle in the Canadian Arctic Inuit and Inuvialuit to inform a nutrition and physical activity intervention programme.

Sharma S.

J Hum Nutr Diet. 2010 Oct;23 Suppl 1:5-17. doi: 10.1111/j.1365-277X.2010.01093.x. Review.

PMID:
21158957
17.

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L.

Hum Genet. 2002 Aug;111(2):179-89. Epub 2002 Jul 16.

PMID:
12189492
19.

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.

Tan L, Narayan SB, Chen J, Meyers GD, Bennett MJ.

J Inherit Metab Dis. 2011 Apr;34(2):443-7. doi: 10.1007/s10545-010-9265-5. Epub 2011 Jan 21.

PMID:
21253826
20.

A review of Aboriginal infant mortality rates in Canada: striking and persistent Aboriginal/non-Aboriginal inequities.

Smylie J, Fell D, Ohlsson A; Joint Working Group on First Nations Indian Inuit; Métis Infant Mortality of the Canadian Perinatal Surveillance System.

Can J Public Health. 2010 Mar-Apr;101(2):143-8. Review.

PMID:
20524380

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