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Items: 1 to 20 of 121

1.

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.

Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, Fukao T, Saito T.

J Hum Genet. 2013 Dec;58(12):788-93. doi: 10.1038/jhg.2013.103. Epub 2013 Oct 3.

PMID:
24088670
2.

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
3.

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P.

Brain Dev. 2015 Aug;37(7):698-703. doi: 10.1016/j.braindev.2014.10.005. Epub 2014 Nov 1.

PMID:
25459972
4.

Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.

Ogawa A, Yamamoto S, Kanazawa M, Takayanagi M, Hasegawa S, Kohno Y.

J Hum Genet. 2000;45(1):52-5.

PMID:
10697964
5.

Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.

Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ.

Mol Aspects Med. 2004 Oct-Dec;25(5-6):521-32. Review.

PMID:
15363639
6.

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M.

Mol Genet Metab. 2006 Dec;89(4):332-8. Epub 2006 Aug 17.

PMID:
16919490
7.

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ.

Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7.

PMID:
21605995
8.

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.

Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N.

Am J Med Genet A. 2004 Apr 15;126A(2):150-5.

PMID:
15057979
9.

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.

Violante S, Ijlst L, Te Brinke H, Koster J, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

Biochim Biophys Acta. 2013 Sep;1831(9):1467-74. doi: 10.1016/j.bbalip.2013.06.007. Epub 2013 Jul 10.

PMID:
23850792
10.

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.

Yan HM, Hu H, Ahmed A, Feng BB, Liu J, Jia ZJ, Wang H.

Medicine (Baltimore). 2017 Nov;96(45):e8549. doi: 10.1097/MD.0000000000008549. Review.

11.

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.

Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR.

Mol Genet Metab. 2001 May;73(1):64-70.

PMID:
11350184
12.

Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.

IJlst L, van Roermund CW, Iacobazzi V, Oostheim W, Ruiter JP, Williams JC, Palmieri F, Wanders RJ.

Biochem Biophys Res Commun. 2001 Jan 26;280(3):700-6.

PMID:
11162577
13.

Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.

Violante S, Ijlst L, Te Brinke H, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

FASEB J. 2013 May;27(5):2039-44. doi: 10.1096/fj.12-216689. Epub 2013 Jan 15.

PMID:
23322164
14.

Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.

Galron D, Birk OS, Kazanovitz A, Moses SW, Hershkovitz E.

J Inherit Metab Dis. 2004;27(2):267-73. Review.

PMID:
15159657
15.

Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.

Hsu BY, Iacobazzi V, Wang Z, Harvie H, Chalmers RA, Saudubray JM, Palmieri F, Ganguly A, Stanley CA.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):248-55.

PMID:
11592821
16.

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
17.

Carnitine-acylcarnitine translocase deficiency: case report and review of the literature.

Rubio-Gozalbo ME, Vos P, Forget PP, Van Der Meer SB, Wanders RJ, Waterham HR, Bakker JA.

Acta Paediatr. 2003 Apr;92(4):501-4. Review.

PMID:
12801121
18.

Prospective treatment in carnitine-acylcarnitine translocase deficiency.

Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A.

J Inherit Metab Dis. 2007 Oct;30(5):815. Epub 2007 May 12.

PMID:
17508264
19.

Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans.

Pérez P, Martínez O, Romero B, Olivas I, Pedregosa AM, Palmieri F, Laborda F, Ramón De Lucas J.

Fungal Genet Biol. 2003 Aug;39(3):211-20.

PMID:
12892634
20.

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

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