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Items: 1 to 20 of 84

1.

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
2.

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.

3.

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.

4.

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Taggart RT, Smail D, Apolito C, Vladutiu GD.

Hum Mutat. 1999;13(3):210-20.

PMID:
10090476
5.

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
6.

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC.

J Lipid Res. 2001 Jul;42(7):1134-42.

7.

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
8.

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
9.

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
10.

Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.

Joshi PR, Deschauer M, Zierz S.

J Neurol Sci. 2014 Mar 15;338(1-2):107-11. doi: 10.1016/j.jns.2013.12.026. Epub 2013 Dec 23.

PMID:
24398345
11.

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
12.

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J.

Mol Aspects Med. 2004 Oct-Dec;25(5-6):495-520. Review.

PMID:
15363638
13.

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
14.

Carnitine palmitoyltransferase deficiencies.

Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L.

Mol Genet Metab. 1999 Dec;68(4):424-40. Review.

PMID:
10607472
15.

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.

Martín MA, Rubio JC, De Bustos F, Del Hoyo P, Campos Y, García A, Börnstein B, Cabello A, Arenas J.

Muscle Nerve. 1999 Jul;22(7):941-3.

PMID:
10398215
16.

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
17.

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

Mak CM, Lam CW, Fong NC, Siu WK, Lee HC, Siu TS, Lai CK, Law CY, Tong SF, Poon WT, Lam DS, Ng HL, Yuen YP, Tam S, Que TL, Kwong NS, Chan AY.

J Hum Genet. 2011 Aug;56(8):617-21. doi: 10.1038/jhg.2011.63. Epub 2011 Jun 23.

PMID:
21697855
18.

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
19.

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

Ogawa E, Kanazawa M, Yamamoto S, Ohtsuka S, Ogawa A, Ohtake A, Takayanagi M, Kohno Y.

J Hum Genet. 2002;47(7):342-7.

PMID:
12111367
20.

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

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