ENZYMATIC DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA WITH LYMPHOBLASTS

被引:38
作者
KURE, S [1 ]
NARISAWA, K [1 ]
TADA, K [1 ]
机构
[1] TOHOKU UNIV, SCH MED, DEPT PEDIAT, SENDAI, MIYAGI 980, JAPAN
关键词
D O I
10.1016/S0022-3476(05)80610-9
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We developed a new enzymatic assay for the glycine cleavage system that used Epstein-Barr virus-transformed lymphoblasts instead of liver biopsy specimens. Patients with nonketotic hyperglycinemia from a deficiency of P-protein could be clearly distinguished from control subjects by activities in their lymphoblasts, suggesting the clinical usefulness of this method.
引用
收藏
页码:95 / 98
页数:4
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