[1] Schiff M, Mohsen AW, Karunanidhi A, et al. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency[J]. Mol Genet Metab,2013, 109(1): 21-27.
[2] Hagenbuchner J, Scholl-Buergi S, Karall D, et al. Very long-/and long chain-3-hydroxy acyl CoA dehydrogenase deficiency correlates with deregulation of the mitochondrial fusion/fission machinery [J]. Sci Rep,2018, 8(1): 3254.
[3] Li X, Ding Y, Ma Y, et al. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis [J]. Eur J Med Genet, 2015, 58(3): 134-139.
[4] Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency[J]. J Hum Genet, 2019, 64(2): 73-85.
[5] Gobin-Limballe S, McAndrew RP, Djouadi F, et al. Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches[J]. Biochim Biophys Acta, 2010,1802(5):478-484.
[6] Janeiro P, Jotta R, Ramos R, et al. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era[J].Eur J Pediatr,2019,178(1-9).doi: 10.1007/s00431-018-03315-2.
[7] Cecatto C, Amaral AU, da Silva JC, et al. Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca2+ homeostasis in the heart[J]. FEBS J, 2018, 285(8): 1437-1455.
[8] Hisahara S, Matsushita T, Furuyama H, et al. A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis[J]. Tohoku J Exp Med, 2015,235(4): 305-310.
[9] Ryder B,Knoll D,Love DR,et al.The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment[J]. J Inherit Metab Dis, 2016, 39(3): 1-6.
[10] Herrera-Olivares AM, Fernández-Luque JA, Paradas C, et al. Combined HIIT and resistance training in very long-chain acyl-CoA dehydrogenase deficiency: a case report[J]. Front Physiol,2019, 10: 650.
[11] MacDonald A, Webster R, Whitlock M, et al. The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study[J].J Pediatr Endocrinol Metab, 2018, 31(3): 297.
[12] Tuccl S. Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models[J]. J Inherit Metab Dis, 2017,40(3): 1-7.
[13] Bleeker JC, Kok IL, Ferdinandusse S, et al. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency[J]. J Inherit Metab Dis, 2019,42(1):159-168.
[14] Kanabus M, Fassone E, Hughes SD, et al. The whole transcriptome effects of the PPARα agonist fenofibrate on livers of hepatocyte humanized mice[J]. BMC Genomics,2018,19(1): 443.
[15] Kanabus M, Fassone E, Hughes SD, et al. The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome[J]. J Inherit Metab Dis, 2016,39(3): 415-426.
[16] Yang Y, Feng Y, Zhang X, et al. Activation of PPARα by fatty acid accumulation enhances fatty acid degradation and sulfatide synthesis[J]. Tohoku J Exp Med,2016,240(2): 113-122.
[17] Evans M, Andresen BS, Nation J, et al. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria[J]. Mol Genet Metab, 2016,118(4): 282-287.
[18] Watanabe K, Yamada K, Sameshima K, et al. Two siblings with very long-chain acyl-CoA dehydrogenase(VLCAD) deficiency suffered from rhabdomyolysis afterl-carnitine supplementation[J]. Mol Genet Metab Rep,2018,15: 121-123.
[19] Abdullah A, Iqbal A, Ishtiaq W, et al. Diagnostic utility of N-terminal pro-Brain natriuretic peptide and C-reactive protein in diagnosing heart failure in patients with acute hypoxemic respiratory failure[J]. Cureus, 2020,12(1): e6835. |
