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1.
Demmelmair, H.* et al.: Determinants of plasma docosahexaenoic acid levels and their relationship to neurological and cognitive functions in PKU patients: A double blind randomized supplementation study. Nutrients 10:1944 (2018)
2.
van den Bruck, R.* et al.: Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016. Mol. Cell. Pediatr. 4, 1:5 (2017)
3.
Staufner, C.* et al.: Recurrent acute liver failure due to NBAS deficiency: Phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3-16 (2016)
4.
Haack, T.B. et al.: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97, 163-169 (2015)