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. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. Tang C; Liu S; Wu M; Lin S; Lin Y; Su L; Zhang J; Feng Y; Huang Y Clin Chim Acta; 2019 Aug; 495():476-480. PubMed ID: 31108048 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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. PubMed ID: 29137068 [TBL] [Abstract][Full Text] [Related]
15. Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency. Jing J; Zhang C; Du S; Tan X; Yue X; Qiao D Cardiovasc Pathol; 2024; 70():107630. PubMed ID: 38490313 [TBL] [Abstract][Full Text] [Related]
16. [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]