Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function
腺苷激酶缺乏会扰乱蛋氨酸循环,导致高蛋氨酸血症、脑病和肝功能异常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.09.004
Magnus K Bjursell, Henk J Blom, Jordi Asin Cayuela, Martin L Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard Struys, Ulrika von Döbeln, Claes M Gustafsson, Joakim Lundeberg, Anna Wedell