TY - JOUR
T1 - Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts
AU - Kure, Shigeo
AU - Narisawa, Kunlaki
AU - Tada, Keiya
N1 - Funding Information:
Supported by grants from the Ministry of Education, Science and Culture, the Ministry of Health and Public Welfare, and the Mit-subishi Foundation, Japan. Submitted for publication June 17, t991; accepted Aug. 14, 1991. Reprint requests: Shigeo Kure, MD, Department of Biochemical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980 Japan. 9/22/33179
PY - 1992/1
Y1 - 1992/1
N2 - 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.
AB - 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.
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U2 - 10.1016/S0022-3476(05)80610-9
DO - 10.1016/S0022-3476(05)80610-9
M3 - Article
C2 - 1309867
AN - SCOPUS:0026536847
VL - 120
SP - 95
EP - 98
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 1
ER -