Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts von Staufner, Christian, Haack, Tobias B., Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Lenz, Dominic, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Ozolek, John A., Zschocke, Johannes, Kuster, Alice, Dick, Anke, Das, Anib M., Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Hoffmann, Georg F.

Volltext

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency von Schmidt, Andreas, Marescau, Bart, Boehm, Ernest A., Renema, W. Klaas Jan, Peco, Ruben, Das, Anib, Steinfeld, Robert, Chan, Sharon, Wallis, Julie, Davidoff, Michail, Ullrich, Kurt, Waldschütz, Ralph, Heerschap, Arend, De Deyn, Peter P., Neubauer, Stefan, Isbrandt, Dirk

Volltext