Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature

Author:

Libell Joshua L.ORCID,Lakhani Dhairya A.ORCID,Balar Aneri B.,Khan Musharaf,Carpenter Jeffrey S.,Joseph Joe T.ORCID

Publisher

Elsevier BV

Subject

Radiology, Nuclear Medicine and imaging

Reference32 articles.

1. Guanidinoacetic acid in human nutrition: beyond creatine synthesis;Ostojic;Food Sci Nutr,2023

2. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids;Engelke;NMR Biomed,2009

3. Creatine: biosynthesis, therapeutic uses and physiological effects of supplementation;Ribeiro,2013

4. Lack of creatine in muscle and brain in an adult with GAMT deficiency;Schulze;Ann Neurol,2003

5. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man;Stöckler;Am J Human Genet,1996

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