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6. 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. PubMed ID: 24088670 [TBL] [Abstract][Full Text] [Related]
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8. 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. PubMed ID: 21605995 [TBL] [Abstract][Full Text] [Related]
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10. 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. PubMed ID: 10697964 [TBL] [Abstract][Full Text] [Related]
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12. 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; 126A(2):150-5. PubMed ID: 15057979 [TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 12892634 [TBL] [Abstract][Full Text] [Related]
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19. 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. PubMed ID: 12801121 [TBL] [Abstract][Full Text] [Related]
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