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Items: 1 to 20 of 141

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
10.

Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.

Vladutiu GD, Bennett MJ, Fisher NM, Smail D, Boriack R, Leddy J, Pendergast DR.

Muscle Nerve. 2002 Oct;26(4):492-8.

PMID:
12362414
11.
12.

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA.

J Inherit Metab Dis. 2007 Apr;30(2):266. Epub 2007 Feb 15.

PMID:
17372854
13.

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.

14.

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Sigauke E, Rakheja D, Kitson K, Bennett MJ.

Lab Invest. 2003 Nov;83(11):1543-54. Review.

PMID:
14615409
15.

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
16.

Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.

Semba S, Yasujima H, Takano T, Yokozaki H.

Pathol Int. 2008 Jul;58(7):436-41. doi: 10.1111/j.1440-1827.2008.02250.x.

PMID:
18577113
17.
18.

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K.

Hum Mutat. 1998;11(5):377-86.

PMID:
9600456
20.

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

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