Creatine Deficiency Syndromes

Author:

Stöckler-Ipsiroglu Sylvia,Mercimek-Mahmutoglu Saadet,Salomons Gajja S.

Publisher

Springer Berlin Heidelberg

Reference65 articles.

1. Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S (Updated 2009) Creatine deficiency syndromes. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2011. Available at http://www.genetests.org

2. Stöckler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 46:149–166

3. Stöckler S, Holzbach U, Hanefeld F et al. (1994) Creatine deficiency in the brain: a new treatable inborn error of metabolism. Pediatr Res 36:409–413

4. Stöckler S, Isbrandt D, Hanefeld F et al. (1996) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58:914–922

5. Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S, Adami A et al. (2006) Clinical, biochemical and molecular features of guanidinoacetate methyltransferase deficiency. Neurology 67:480–484

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