Search Results - "Das, Anib"

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts by 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.

“…Background Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency and in about 50 % the etiology remains unknown. Recently…”
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Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency by 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

“…We generated a knockout mouse model for guanidinoacetate N-methyltransferase (GAMT) deficiency (MIM 601240), the first discovered human creatine deficiency…”
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