Gas chromatography/mass spectrometry assay for arginine: Glycine–amidinotransferase deficiency
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference11 articles.
1. Creatine and creatinine metabolism;Wyss;Physiol. Rev.,2000
2. Arginine:glycine-amidinotransferase (AGAT) deficiency: the third inborn error of creatine metabolism in man;Item;Am. J. Hum. Genet.,2001
3. Reversible brain creatine deficiency in two sisters with normal blood creatine level;Bianchi;Ann. Neurol.,2000
4. AGAT deficiency in a newborn: a challenge to prevent the clinical symptoms;Battini;J. Inher. Metab. Dis.,2004
5. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree;Battini;Mol. Gen. Metab.,2002
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