PuSH - Publication Server of Helmholtz Zentrum München

7 Records found.
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1.
Baertling, F.* et al.: Neonatal encephalocardiomyopathy caused by mutations in VARS2. Metab. Brain Dis. 32, 267-270 (2017)
2.
Gimpfl, M.* et al.: Modification of the fatty acid composition of an obesogenic diet improves the maternal and placental metabolic environment in obese pregnant mice. Biochim. Biophys. Acta-Mol. Basis Dis. 1863, 1605-1614 (2017)
3.
Herebian, D.* et al.: Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics. Mol. Genet. Metab. 121, 216-223 (2017)
4.
Herebian, D.* et al.: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092-1095 (2017)
5.
Danhauser, K.* et al.: EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab. Brain Dis. 31, 717-721 (2016)
6.
Kremer, L.S. et al.: NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am. J. Hum. Genet. 99, 894-902 (2016)
7.
Baertling, F.* et al.: MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities. Neurogenetics 16, 237-240 (2015)