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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)
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
Lenz, D.* et al.: SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet. Med. 20, 1255-1265 (2018)
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
Puusepp, S.* et al.: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Eur. J. Hum. Genet. 26, 407-419 (2018)
Kopajtich, R. et al.: Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy. Am. J. Hum. Genet. 99, 414-422 (2016)
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)
van Haute, L.* et al.: Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3. Nat. Commun. 7:12039 (2016)
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
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)
Haack, T.B. et al.: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)