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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 is a treatable disease. al Aqeel AI; Rashed MS; Wanders RJ J Inherit Metab Dis; 1999 May; 22(3):271-5. PubMed ID: 10384385 [No Abstract] [Full Text] [Related]
9. Carnitine-acylcarnitine translocase deficiency: implications in human pathology. Pande SV; Murthy MS Biochim Biophys Acta; 1994 Jul; 1226(3):269-76. PubMed ID: 8054358 [No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 25459972 [TBL] [Abstract][Full Text] [Related]
12. 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]
15. 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]
16. 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]
18. 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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20. Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. Nuoffer JM; de Lonlay P; Costa C; Roe CR; Chamoles N; Brivet M; Saudubray JM Eur J Pediatr; 2000; 159(1-2):82-5. PubMed ID: 10653336 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]