| 1 | 新生儿精氨酸-甘氨酸脒基转移酶缺乏:早期治疗可以阻止疾病表型的发生显示文摘Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation,language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation.In contrast with his 2 older sisters, he had normal psychomotor development at 18 months. | Battini R. Alessandr M.G. Leuzzi V. G.Cioni 贺莉 | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，0，11： | 1 |
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