TY - JOUR
T1 - Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts
AU - Christodoulou, John
AU - Kure, Shigeo
AU - Hayasaka, Kiyoshi
AU - Clarke, Joe T.R.
PY - 1993/7
Y1 - 1993/7
N2 - A 13-year old girl with early-onset, mild, slowly progressive mental retardation caused by nonketotic hyperglycinemia is described. The plasma and cerebrospinal fluid glycine concentrations were elevated, but the cerebrospinal fluid/plasma glycine ratio was only midly elevated. The diagnosis was confirmed by demonstration of a detect in the activity of the glycine cleavage system in cultured lymphoblasts.
AB - A 13-year old girl with early-onset, mild, slowly progressive mental retardation caused by nonketotic hyperglycinemia is described. The plasma and cerebrospinal fluid glycine concentrations were elevated, but the cerebrospinal fluid/plasma glycine ratio was only midly elevated. The diagnosis was confirmed by demonstration of a detect in the activity of the glycine cleavage system in cultured lymphoblasts.
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U2 - 10.1016/S0022-3476(05)81550-1
DO - 10.1016/S0022-3476(05)81550-1
M3 - Article
C2 - 8320601
AN - SCOPUS:0027315638
SN - 0022-3476
VL - 123
SP - 100
EP - 102
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 1
ER -