Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans-Reference-Cited by-同舟云学术

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Published:2001-11 Issue:5 Volume:69 Page:1127-1133
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Item Chike Bellarmine,Stöckler-Ipsiroglu Sylvia,Stromberger Carmen,Mühl Adolf,Alessandrì Maria Grazia,Bianchi Maria Cristina,Tosetti Michela,Fornai Francesco,Cioni Giovanni

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

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2. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass-spectrometry;Bodamer;Clin Chim Acta,2001

3. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?;Cecil;Ann Neurol,2001

4. Methods in clinical molecular genetics;Cotton;Eur J Pediatr,2000

5. Proof of “disease causing” mutation;Cotton;Hum Mutat,1998

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