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Number of items: 4.

Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi-Vici, Carlo; Dobbelaere, Dries; Garcia-Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Ah Mew, Nicholas; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter (2018). Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. Journal of Inherited Metabolic Disease:Epub ahead of print.

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.

Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg F; Häberle, Johannes (2016). Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet Journal of Rare Diseases, 11(1):116.

Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M; Male, Alison M; Marques, Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A; Rozenberg, Flore; Schmidt, Johanna L; Steindl, Katharina; Tan, Tiong Y; van der Merwe, William G; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J; Keegan, Liam P; O'Connell, Mary A; Lovell, Simon C; Crow, Yanick J (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11):1243-1248.

This list was generated on Sun Sep 15 21:04:13 2019 CEST.