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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.
Alston, C.L.* et al.: Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99, 217-227 (2016)
3.
Ahting, U.* et al.: Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency. Front. Genet. 6:123 (2015)