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Items: 1 to 20 of 90

1.

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
2.

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
3.

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
4.

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.

5.

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
6.

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.

7.

Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.

Tsuburaya R, Sakamoto O, Arai N, Kobayashi H, Hasegawa Y, Yamaguchi S, Shigematsu Y, Takayanagi M, Ohura T, Tsuchiya S.

Brain Dev. 2010 May;32(5):409-11. doi: 10.1016/j.braindev.2009.03.004. Epub 2009 Apr 3.

PMID:
19345525
8.

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
9.

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.

Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M.

Pediatrics. 2001 Jun;107(6):E103.

PMID:
11389301
10.

Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.

Gessner BD, Wood T, Johnson MA, Richards CS, Koeller DM.

Genet Med. 2016 Jan 28. doi: 10.1038/gim.2015.197. [Epub ahead of print]

PMID:
26820065
11.

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA.

Clin Chem. 2001 Oct;47(10):1763-8.

12.

Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, Deschauer M, Handig I, Wuyts W, Das AM.

Am J Med Genet A. 2008 Nov 15;146A(22):2925-8. doi: 10.1002/ajmg.a.32545.

PMID:
18925671
13.

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.

14.

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

Prip-Buus C, Thuillier L, Abadi N, Prasad C, Dilling L, Klasing J, Demaugre F, Greenberg CR, Haworth JC, Droin V, Kadhom N, Gobin S, Kamoun P, Girard J, Bonnefont JP.

Mol Genet Metab. 2001 May;73(1):46-54.

PMID:
11350182
15.

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
16.

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, Bonnefont JP, Girard J, Prip-Buus C.

J Biol Chem. 2003 Dec 12;278(50):50428-34. Epub 2003 Sep 29.

17.

Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.

Roomets E, Polinati PP, Euro L, Eskelin PM, Paganus A, Tyni T.

J Pediatr. 2012 Mar;160(3):473-479.e1. doi: 10.1016/j.jpeds.2011.08.032. Epub 2011 Sep 29.

PMID:
21962599
18.

Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.

Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, Beischel L, Thuillier L, Prip-Buus C, Singal R, Thompson JR, Prasad AN, Buist N, Greenberg CR.

Mol Genet Metab. 2001 May;73(1):55-63.

PMID:
11350183
19.

An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.

van Vlies N, Ruiter JP, Doolaard M, Wanders RJ, Vaz FM.

Mol Genet Metab. 2007 Jan;90(1):24-9. Epub 2006 Aug 28.

PMID:
16935015
20.

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.

Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ.

Mol Genet Metab. 2005 Nov;86(3):337-43. Epub 2005 Sep 16.

PMID:
16146704
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