These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
9. A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. Niezen-Koning KE; van Spronsen FJ; Ijlst L; Wanders RJ; Brivet M; Duran M; Reijngoud DJ; Heymans HS; Smit GP J Inherit Metab Dis; 1995; 18(2):230-2. PubMed ID: 7564255 [No Abstract] [Full Text] [Related]
10. First prenatal diagnosis of the carnitine transporter defect. Christodoulou J; Teo SH; Hammond J; Sim KG; Hsu BY; Stanley CA; Watson B; Lau KC; Wilcken B Am J Med Genet; 1996 Dec; 66(1):21-4. PubMed ID: 8957505 [TBL] [Abstract][Full Text] [Related]
11. Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. Ogier de Baulny H; Slama A; Touati G; Turnbull DM; Pourfarzam M; Brivet M J Pediatr; 1995 Nov; 127(5):723-8. PubMed ID: 7472823 [TBL] [Abstract][Full Text] [Related]
18. Bezafibrate for an inborn mitochondrial beta-oxidation defect. Bonnefont JP; Bastin J; Behin A; Djouadi F N Engl J Med; 2009 Feb; 360(8):838-40. PubMed ID: 19228633 [No Abstract] [Full Text] [Related]
19. Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids. Roe DS; Roe CR; Brivet M; Sweetman L Mol Genet Metab; 2000 Jan; 69(1):69-75. PubMed ID: 10655160 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16996287 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]