PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
Lay all publications on this page into basket
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.
Anikster, Y.* et al.: Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257-266 (2017)
3.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
4.
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)
5.
Schiff, M.* et al.: Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum. Mol. Genet. 24, 3238-3247 (2015)