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1.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
2.
Brea-Calvo, G.* et al.: COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96, 309-317 (2015)
3.
Steenweg, M.E.* et al.: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 135, 1387-1394 (2012)