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Autor:
Liang-Hui Chen, Luis C. López, Yukiko K. Hayashi, Satoru Noguchi, Aya Ohkuma, Wen-Chen Liang, Ikuya Nonaka, Yuh-Jyh Jong, Ichizo Nishino, Michio Hirano
Publikováno v:
Neuromuscular Disorders. 19:212-216
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a metabolic disorder due to dysfunction of electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO). Mutations in ETFDH, encoding ETF-QO have been associated with both ribofla