Marti H R, Arnold H, Palla C, Gugler E
Schweiz Med Wochenschr. 1984 Oct 13;114(41):1434-6.
A Swiss family with abnormal red cell pyruvate kinase is described. In two new-born siblings the red cell defect was responsible for marked hyperbilirubinemia. At the present time both children have compensated hemolysis and are clinically healthy. The abnormal enzyme is unstable and has a decreased Hill coefficient and a decreased substrate affinity. It is different from two other enzyme variants found in the same area.
描述了一个患有异常红细胞丙酮酸激酶的瑞士家庭。在两个新生儿兄弟姐妹中，红细胞缺陷导致了明显的高胆红素血症。目前，两个孩子的溶血已得到代偿，临床健康。这种异常酶不稳定，希尔系数降低，底物亲和力下降。它与在同一地区发现的其他两种酶变体不同。
