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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett ; Haack, Tobias ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole ; Wortmann, Saskia ; Taylor, Robert ; Mayr, Johannes ; Bonnen, Penelope ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 905-914

Consortium of Swiss Academic Libraries

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

Sterl, Elisabeth ; Paul, Karl ; Paschke, Eduard ; Zschocke, Johannes ; Brunner-Krainz, Michaela ; Windisch, Eva ; Konstantopoulou, Vassiliki ; Möslinger, Dorothea ; Karall, Daniela ; Scholl-Bürgi, Sabine ; Sperl, Wolfgang ; Lagler, Florian ; Plecko, Barbara

In: Journal of Inherited Metabolic Disease, 2013, vol. 36, no. 1, p. 7-13

Consortium of Swiss Academic Libraries

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

Tischner, Christin ; Hofer, Annette ; Wulff, Veronika ; Stepek, Joanna ; Dumitru, Iulia ; Becker, Lore ; Haack, Tobias ; Kremer, Laura ; Datta, Alexandre N. ; Sperl, Wolfgang ; Floss, Thomas ; Wurst, Wolfgang ; Chrzanowska-Lightowlers, Zofia ; De Angelis, Martin Hrabe ; Klopstock, Thomas ; Prokisch, Holger ; Wenz, Tina

In: Human Molecular Genetics, 2015, vol. 24, no. 8, p. 2247-2266

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