PubMed (Bookshelf cited) for id: 316820

Year	Number of Results
1997	1
2000	1
2001	4
2002	1
2004	2
2005	1
2006	1
2009	1
2010	2
2011	1
2014	1
2015	1
2022	1
2024	0

1

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

2

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH. Rinaldi C, et al. JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. JAMA Neurol. 2015. PMID: 25751282 Free PMC article.

3

A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations.

Clemente FJ, Cardona A, Inchley CE, Peter BM, Jacobs G, Pagani L, Lawson DJ, Antão T, Vicente M, Mitt M, DeGiorgio M, Faltyskova Z, Xue Y, Ayub Q, Szpak M, Mägi R, Eriksson A, Manica A, Raghavan M, Rasmussen M, Rasmussen S, Willerslev E, Vidal-Puig A, Tyler-Smith C, Villems R, Nielsen R, Metspalu M, Malyarchuk B, Derenko M, Kivisild T. Clemente FJ, et al. Am J Hum Genet. 2014 Nov 6;95(5):584-589. doi: 10.1016/j.ajhg.2014.09.016. Epub 2014 Oct 23. Am J Hum Genet. 2014. PMID: 25449608 Free PMC article.

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. Gillingham MB, et al. Mol Genet Metab. 2011 Nov;104(3):261-4. doi: 10.1016/j.ymgme.2011.06.017. Epub 2011 Jun 28. Mol Genet Metab. 2011. PMID: 21763168 Free PMC article. Clinical Trial.

5

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

Gessner BD, Gillingham MB, Birch S, Wood T, Koeller DM. Gessner BD, et al. Pediatrics. 2010 Nov;126(5):945-51. doi: 10.1542/peds.2010-0687. Epub 2010 Oct 11. Pediatrics. 2010. PMID: 20937660

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. Collins SA, et al. 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

7

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. Rajakumar C, et al. J Lipid Res. 2009 Jun;50(6):1223-8. doi: 10.1194/jlr.P900001-JLR200. Epub 2009 Jan 29. J Lipid Res. 2009. PMID: 19181627 Free PMC article.

8

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

Park JY, Narayan SB, Bennett MJ. Park JY, et al. Clin Chem Lab Med. 2006;44(9):1090-1. doi: 10.1515/CCLM.2006.196. Clin Chem Lab Med. 2006. PMID: 16958601

9

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

Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ. Korman SH, et al. Mol Genet Metab. 2005 Nov;86(3):337-43. doi: 10.1016/j.ymgme.2005.07.022. Epub 2005 Sep 16. Mol Genet Metab. 2005. PMID: 16146704

10

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

Stoler JM, Sabry MA, Hanley C, Hoppel CL, Shih VE. Stoler JM, et al. J Inherit Metab Dis. 2004;27(5):679-84. doi: 10.1023/b:boli.0000042979.42120.55. J Inherit Metab Dis. 2004. PMID: 15669684

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