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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)
Ahting, U.* et al.: Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency. Front. Genet. 6:123 (2015)
Mayr, J.A.* et al.: Spectrum of combined respiratory chain defects. J. Inherit. Metab. Dis. 38, 629-640 (2015)
Haack, T.B. et al.: Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J. Inherit. Metab. Dis. 36, 55-62 (2013)
Haack, T.B. et al.: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)
Mayr, J.A.* et al.: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am. J. Hum. Genet. 89, 806-812 (2011)
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)
Herzer, M. et al.: Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics 41, 30-34 (2010)
O'Toole, J.F.* et al.: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120, 791-802 (2010)
Rolinski, B.* et al.: The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project : Determination of amino acids and acylcarnitines by tandem mass spectrometry. Mamm. Genome 11, 547-551 (2000)