MTMT-ben szereplő publikációk tallózása szerző szerint "Ahting, Uwe"

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  • Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11 
    Reinson, Karit; Kovács-Nagy, Réka; Õiglane-Shlik, Eve; Pajusalu, Sander; Nõukas, Margit; Wintjes, Liesbeth T; van den Brandt, Frans C A; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schänzer, Anne; Haack, Tobias B; Rodenburg, Richard J; Õunap, Katrin (2019)
    Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The NDUFB11 gene is one of the recently identified genes, which ...
  • NAD(P)HX dehydratase (NAXD) deficiency 
    Van Bergen, Nicole J; Guo, Yiran; Rankin, Julia; Paczia, Nicole; Becker-Kettern, Julia; Kremer, Laura S; Pyle, Angela; Conrotte, Jean-François; Ellaway, Carolyn; Procopis, Peter; Prelog, Kristina; Homfray, Tessa; Baptista, Júlia; Baple, Emma; Wakeling, Matthew; Massey, Sean; Kay, Daniel P; Shukla, Anju; Girisha, Katta M; Lewis, Leslie E S; Santra, Saikat; Power, Rachel; Daubeney, Piers; Montoya, Julio; Ruiz-Pesini, Eduardo; Kovács-Nagy, Réka; Pritsch, Martin; Ahting, Uwe; Thorburn, David R; Prokisch, Holger; Taylor, Robert W; Christodoulou, John; Linster, Carole L; Ellard, Sian; Hakonarson, Hakon (2019)
    Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) ...