Pescaglini M, Micheli V, Simmonds H A, Rocchigiani M, Pompucci G
Dipartimento di Biologia Molecolare, Università di Siena, Italy.
Clin Chim Acta. 1994 Sep;229(1-2):15-25. doi: 10.1016/0009-8981(94)90225-9.
A non-radiochemical method linked to reverse-phase high-performance liquid chromatography was developed to determine the activity of nicotinic acid phosphoribosyltransferase (EC 2.4.2.11) in crude lysates of human red blood cells. The method is accurate and easily reproducible in different chromatographic systems. The enzyme activity was determined in erythrocytes of healthy subjects and in patients with different purine disorders showing altered NAD levels. Very low enzyme activity was found in a boy hemizygous for phosphoribosylpyrophosphate synthetase superactivity, consistent with the low erythrocyte NAD concentration.
开发了一种与反相高效液相色谱相关的非放射化学方法，用于测定人红细胞粗裂解物中烟酸磷酸核糖基转移酶（EC 2.4.2.11）的活性。该方法在不同的色谱系统中准确且易于重现。在健康受试者的红细胞以及患有不同嘌呤紊乱且NAD水平改变的患者中测定了酶活性。在一名磷酸核糖焦磷酸合成酶超活性半合子男孩中发现酶活性非常低，这与红细胞中低NAD浓度一致。
