Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference17 articles.
1. Reversible brain creatine deficiency in two sisters with normal blood creatine level;Bianchi;Ann. Neurol.,2000
2. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome;Salomons;Am. J. Hum. Genet.,2001
3. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism;Stromberger;J. Inherit. Metab. Dis.,2003
4. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans;Item;Am. J. Hum. Genet.,2001
5. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28;Hahn;Am. J. Hum. Genet.,2002
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