Transient neonatal nonketotic hyperglycinemia: A 13-year follow-up

被引：12
|
作者：
Zammarchi, E
Donati, MA
Ciani, F
机构：
[1] Dipartimento di Pediatria, Universita di Firenze, Ospedale 'A Meyer', I-50132 Firenze
来源：
NEUROPEDIATRICS | 1995年 / 26卷 / 06期
关键词：
nonketotic hyperglycinemia; glycine cleavage system;
D O I：
10.1055/s-2007-979785
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report on a patient with transient nonketotic hyperglycinemia (NKH). Onset, clinical features, biochemical and electroencephalographic findings were consistent with neonatal nonketotic hyperglycinemia. The normalization of clinical, biochemical and electroencephalographic features on day 9 without specific therapy suggested a transient form. At the last follow-up the girl was 13 years old, had a normal mental development, no EEG abnormalities or neurological deficits.
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页码：328 / 330
页数：3
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