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Items: 1 to 20 of 240

1.

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
2.

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
3.

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.

4.

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ.

J Clin Invest. 1998 Aug 1;102(3):527-31.

5.

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
6.

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
7.

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

Martín MA, Rubio JC, del Hoyo P, García A, Bustos F, Campos Y, Cabello A, Culebras JM, Arenas J.

Hum Mutat. 2000 Jun;15(6):579-80.

PMID:
10862092
8.

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
9.

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Isackson PJ, Bennett MJ, Vladutiu GD.

Mol Genet Metab. 2006 Dec;89(4):323-31. Epub 2006 Sep 22.

PMID:
16996287
10.

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
11.

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ.

J Inherit Metab Dis. 2003;26(6):543-57.

PMID:
14605500
12.

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.

PMID:
15365988
13.

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C.

Mol Genet Metab. 1998 Aug;64(4):229-36.

PMID:
9758712
14.

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
15.

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
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.

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
18.

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.

Angelini C, Trevisan C, Isaya G, Pegolo G, Vergani L.

Clin Biochem. 1987 Feb;20(1):1-7. Review.

PMID:
3552320
19.

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
20.

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

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