Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://www.nature.com/articles/pr2014203.pdf
Reference60 articles.
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3. Stöckler S, Holzbach U, Hanefeld F, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994;36:409–13.
4. Bianchi MC, Tosetti M, Fornai F, et al. Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 2000;47:511–3.
5. Cecil KM, Salomons GS, Ball WS Jr, et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001;49:401–4.
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