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For: Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. Brain Dev 2015;37:698-703. [PMID: 25459972 DOI: 10.1016/j.braindev.2014.10.005] [Cited by in Crossref: 17] [Cited by in F6Publishing: 12] [Article Influence: 2.1] [Reference Citation Analysis]
Number Citing Articles
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2 Chen M, Cai Y, Li S, Xiong H, Liu M, Ma F, Xiao X, Hao H. Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy. Front Pediatr 2020;8:585646. [PMID: 33194920 DOI: 10.3389/fped.2020.585646] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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4 Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. J Hum Genet 2019;64:73-85. [PMID: 30401918 DOI: 10.1038/s10038-018-0527-7] [Cited by in Crossref: 33] [Cited by in F6Publishing: 29] [Article Influence: 8.3] [Reference Citation Analysis]
5 Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia. Clin Biochem 2021;98:48-53. [PMID: 34626609 DOI: 10.1016/j.clinbiochem.2021.10.002] [Reference Citation Analysis]
6 Tran VK, Diep QM, Qiu Z, Le TP, Do LD, Tran HA, Bui TH, Ta TV, Tran TH. Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency. Taiwan J Obstet Gynecol 2022;61:153-6. [PMID: 35181030 DOI: 10.1016/j.tjog.2021.11.027] [Reference Citation Analysis]
7 Ma Z, Xu J, Wu L, Wang J, Lin Q, Chowdhury FA, Mazumder MHH, Hu G, Li X, Du W. Hes1 deficiency causes hematopoietic stem cell exhaustion. Stem Cells 2020;38:756-68. [PMID: 32129527 DOI: 10.1002/stem.3169] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
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9 Yuan P, Mu J, Wang Z, Ma S, Da X, Song J, Zhang H, Yang L, Li J, Yang J. Down-regulation of SLC25A20 promotes hepatocellular carcinoma growth and metastasis through suppression of fatty-acid oxidation. Cell Death Dis 2021;12:361. [PMID: 33824298 DOI: 10.1038/s41419-021-03648-1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
10 Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. J Inherit Metab Dis 2021;44:903-15. [PMID: 33634872 DOI: 10.1002/jimd.12371] [Reference Citation Analysis]
11 Tang C, Liu S, Wu M, Lin S, Lin Y, Su L, Zhang J, Feng Y, Huang Y. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. Clin Chim Acta 2019;495:476-80. [PMID: 31108048 DOI: 10.1016/j.cca.2019.05.018] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
12 Phowthongkum P, Ittiwut C, Shotelersuk V. Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation. JIMD Rep 2018;41:11-6. [PMID: 29159461 DOI: 10.1007/8904_2017_74] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
13 Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Nakama M, Hori T, Ohnishi H, Turner L, Fukao T. Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. Mol Genet Genomic Med 2017;5:177-84. [PMID: 28361105 DOI: 10.1002/mgg3.275] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
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15 Yan HM, Hu H, Ahmed A, Feng BB, Liu J, Jia ZJ, Wang H. Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. Medicine (Baltimore) 2017;96:e8549. [PMID: 29137068 DOI: 10.1097/MD.0000000000008549] [Cited by in Crossref: 9] [Cited by in F6Publishing: 3] [Article Influence: 1.8] [Reference Citation Analysis]
16 Kingsmore SF, Henderson A, Owen MJ, Clark MM, Hansen C, Dimmock D, Chambers CD, Jeliffe-Pawlowski LL, Hobbs C. Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ Genom Med 2020;5:49. [PMID: 33154820 DOI: 10.1038/s41525-020-00155-8] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]