期刊
JOURNAL OF PEDIATRICS
卷 148, 期 6, 页码 828-830出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2006.01.043
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资金
- Telethon [GGP04092] Funding Source: Medline
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.
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