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Mathis, Déborah; Koch, Jasmine; Koller, Sophie; Sauter, Kay; Flück, Christa; Uldry, Anne-Christine; Forny, Patrick; Froese, D Sean; Laemmle, Alexander (2024). Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency. Molecular genetics and metabolism reports, 39(101066) Elsevier 10.1016/j.ymgmr.2024.101066
Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017
