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Showing articles 0 to 8 of 8 Filter Applied: gene (Click to remove) Wilson Disease Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992 FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018 An unusual cause of stroke and hypoxia BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011 Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder Brain 133:655-670, Leen,W.G., et al, 2010 The Expanding Phenotype of GLUT1-Deficiency Syndrome Brain & Dev 31:545-552, Brockmann,K., 2009 Aicardi-Gouti�res Syndrome Br Med Bull 89:183-201, Orcesi, S.,et al, 2009 Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred Medicine 68:1-29, Lamiell,J.M.,et al, 1989 Homing in on Wilson's Disease Editorial, Lancet 1:822-8231989., , 1989 Showing articles 0 to 8 of 8