X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0212-4
Reference15 articles.
1. Almeida LS, Verhoeven NM, Roos B, et al (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82: 214–219.
2. Arias A, Garcia-Villoria J, Ribes A (2004) Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects. Mol Genet Metab 82: 220–223.
3. Bianchi MC, Tosseti M, Fornai F, et al (2000) Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 47: 511–513.
4. Bizzi A, Bugiani M, Salomons GS, et al (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52: 227–231.
5. Cecil KM, Salomons GS, Ball WS Jr, et al (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49: 401–404.
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