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Items: 1 to 20 of 84

1.

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
2.

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
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.

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
5.

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 Sep;18(9):933-9. doi: 10.1038/gim.2015.197. Epub 2016 Jan 28.

6.

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
7.

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.

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.

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

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

Genet Med. 2017 Aug;19(8):851-857. doi: 10.1038/gim.2016.202. Epub 2017 Jan 26. Review.

10.

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.

11.

Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.

Yamamoto T, Tanaka H, Emoto Y, Umehara T, Fukahori Y, Kuriu Y, Matoba R, Ikematsu K.

Brain Dev. 2014 Jun;36(6):479-83. doi: 10.1016/j.braindev.2013.07.011. Epub 2013 Aug 19.

PMID:
23969168
12.

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML.

Mol Genet Metab. 2004 May;82(1):59-63.

PMID:
15110323
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.

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP.

J Neurol Sci. 2008 Mar 15;266(1-2):97-103. Epub 2007 Oct 23.

PMID:
17936304
15.

A novel mutation identified in carnitine palmitoyltransferase II deficiency.

Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR.

Mol Genet Metab. 1998 Feb;63(2):110-5.

PMID:
9562964
16.

Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.

Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.

Mol Genet Metab. 2011 Apr;102(4):399-406. doi: 10.1016/j.ymgme.2010.12.004. Epub 2010 Dec 14.

PMID:
21227726
17.

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
18.

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
19.

Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.

Yasuno T, Kaneoka H, Tokuyasu T, Aoki J, Yoshida S, Takayanagi M, Ohtake A, Kanazawa M, Ogawa A, Tojo K, Saito T.

Clin Genet. 2008 May;73(5):496-501. doi: 10.1111/j.1399-0004.2008.00986.x. Epub 2007 Mar 19.

PMID:
18363739
20.

[Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency].

Cui D, Hu Y, Shen D, Tang G, Zhang M, Duan J, Wen P, Liao J, Ma D, Chen S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):228-231. doi: 10.3760/cma.j.issn.1003-9406.2017.02.017. Chinese.

PMID:
28397225

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