Publications by authors named "Kay Sauter"

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Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel Variants.
Jani Liimatta, Kay Sauter, Therina du Toit, André Schaller, Dagmar l'Allemand

JCEM Case Rep· February 2025

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Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Déborah Mathis, Jasmine Koch, Sophie Koller, Kay Sauter, Christa Flück

Mol Genet Metab Rep· June 2024

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In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity.
Efstathios Katharopoulos, Kay Sauter, Amit V Pandey, Christa E Flück

J Steroid Biochem Mol Biol· June 2019

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