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6. 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]
7. [Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G]. Fan X; Xie BB; Zhang Q; Yi S; Geng GX; Yang Q; Luo JS; Wang J; Li C; Chen SK; Shen YP Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):545-549. PubMed ID: 29996190 [No Abstract] [Full Text] [Related]
8. 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. PubMed ID: 11350184 [TBL] [Abstract][Full Text] [Related]
10. Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. Al-Mendalawi MD Saudi Med J; 2011 Feb; 32(2):203; author reply 203. PubMed ID: 21301774 [No Abstract] [Full Text] [Related]
11. Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. Lee RS; Lam CW; Lai CK; Yuen YP; Chan KY; Shek CC; Chan AY; Chow CB Hong Kong Med J; 2007 Feb; 13(1):66-8. PubMed ID: 17277394 [TBL] [Abstract][Full Text] [Related]
12. Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. Geven WB; Niezen-Koning KE; Timmer A; van Loon AJ; Wanders RJ; van Spronsen FJ BJOG; 2007 Aug; 114(8):1028-30. PubMed ID: 17578469 [No Abstract] [Full Text] [Related]
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]
20. A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. Al Aqeel AI; Rashid MS; Ruiter JP; Ijlst L; Wanders RJ Clin Genet; 2003 Aug; 64(2):163-5. PubMed ID: 12859414 [No Abstract] [Full Text] [Related] [Next] [New Search]