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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)
Staufner, C.* et al.: Genetic cause and prevalence of hydroxyprolinemia. J. Inherit. Metab. Dis. 39, 625-632 (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)
Danhauser, K. et al.: DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am. J. Hum. Genet. 91, 1082-1087 (2012)