Journal of inherited metabolic disease : JIMD

Inhaltalles ausklappenalles einklappen

1. 2021

   • Jg. 44 (2021): Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.

     S. 857

     Mütze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Grünert, Sarah C.; Spiekerkoetter, Ute; Santer, René; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arélin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Krämer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A.; Maier, Esther M.; Hoffmann, Georg F.; Garbade, Sven F.; Kölker, Stefan
2. 2020

   • Jg. 43: Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study

     S. 981

     Gancheva, Sofiya; Caspari, Daria; Bierwagen, Alessandra; Jelenik, Tomas; Caprio, Sonia; Santoro, Nicola; Rothe, Maik; Markgraf, Daniel F.; Herebian, Diran; Hwang, Jong-Hee; Öner-Sieben, Soner; Mennenga, Jasmin; Pacini, Giovanni; Thimm, Eva; Schlune, Andrea; Meissner, Thomas; vom Dahl, Stephan; Klee, Dirk; Mayatepek, Ertan; Roden, Michael; Ensenauer, Regina