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Morris, Andrew A M; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg I M; Chakrapani, Anupam B; Crushell, Ellen; Henderson, Mick J; Hochuli, Michel; Huemer, Martina; Janssen, Miriam C H; Maillot, Francois; Mayne, Philip D; McNulty, Jenny; Morrison, Tara M; Ogier, Helene; O'Sullivan, Siobhan; Pavlíková, Markéta; de Almeida, Isabel Tavares; Terry, Allyson; Yap, Sufin; Blom, Henk J; Chapman, Kimberly A (2017). Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of Inherited Metabolic Disease, 40(1):49-74.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in Medicine, 18(10):991-1000.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

This list was generated on Fri Jul 20 17:17:34 2018 CEST.