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O'Byrne, James J. and Tarailo-Graovac, Maja and Ghani, Aisha and Champion, Michael and Deshpande, Charu and Dursun, Ali and Ozgul, Riza K. and Freisinger, Peter and Garber, Ian and Haack, Tobias B. and Horvath, Rita and Barić, Ivo and Husain, Ralf A. and Kluijtmans, Leo A.J. and Kotzaeridou, Urania and Morris, Andrew A. and Ross, Colin J. and Santra, Saikat and Smeitink, Jan and Tarnopolsky, Mark and Wortmann, Saskia B. and Mayr, Johannes A. and Brunner-Krainz, Michaela and Prokisch, Holger and Wasserman, Wyeth W. and Wevers, Ron A. and Engelke, Udo F. and Rodenburg, Richard J. and Ting, Teck Wah and McFarland, Robert and Taylor, Robert W. and Salvarinova, Ramona and van Karnebeek, Clara D.M. (2018) The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular Genetics and Metabolism, 123 (1). pp. 28-42. ISSN 1096-7192
Haack, Tobias B. and Staufner, Christian and Köpke, Marlies G. and Straub, Beate K. and Kölker, Stefan and Thiel, Christian and Freisinger, Peter and Barić, Ivo and McKiernan, Patrick J. and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Kühr, Joachim and Himbert, Urban and Taylor, Robert W. and Distelmaier, Felix and Vockley, Jerry and Ghaloul-Gonzalez, Lina and Zschocke, Johannes and Kremer, Laura S. and Graf, Elisabeth and Schwarzmayr, Thomas and Bader, Daniel M. and Gagneur, Julien and Wieland, Thomas and Terrile, Caterina and Strom, Tim M. and Meitinger, Thomas and Hoffmann, Georg F. and Prokisch, Holger (2015) Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. American Journal of Human Genetics, 97 (1). pp. 163-169. ISSN 0002-9297
