Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg201410.pdf
Reference24 articles.
1. Olsen, RK, Olpin, SE, Andresen, BS, Miedzybrodzka, ZH, Pourfarzam, M, Merinero, B et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130, 2045–2054 (2007).
2. Yotsumoto, Y, Hasegawa, Y, Fukuda, S, Kobayashi, H, Endo, M, Fukao, T et al. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol. Genet. Metab. 94, 61–67 (2008).
3. Olsen, RK, Andresen, BS, Christensen, E, Bross, P, Skovby, F & Gregersen, N Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum. Mutat. 22, 12–23 (2003).
4. Wen, B, Dai, T, Li, W, Zhao, Y, Liu, S, Zhang, C et al. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J. Neurol. Neurosurg. Psychiatry 81, 231–236 (2010).
5. Cornelius, N, Byron, C, Hargreaves, I, Guerra, PF, Furdek, AK, Land, J et al. Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency. Hum. Mol. Genet. 22, 3819–3827 (2013).
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