Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle-Reference-Cited by-同舟云学术

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Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

Published:2004-07 Issue:3 Volume:82 Page:208-213
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ensenauer R,Thiel T,Schwab K.O,Tacke U,Stöckler-Ipsiroglu S,Schulze A,Hennig J,Lehnert W

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Creatine deficiency in the brain: a new, treatable inborn error of metabolism;Stöckler;Pediatr. Res.,1994

2. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism;Schulze;J. Pediatr.,1997

3. Guanidinoacetate methyltransferase deficiency: new clinical features;Ganesan;Pediatr. Neurol.,1997

4. Mental retardation and behavior problems as presenting signs of a creatine synthesis defect;van der Knapp;Ann. Neurol.,2000

5. Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation);Leuzzi;Neurology,2000

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