Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference13 articles.
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3. Guanidinoacetate methyltransferase deficiency: New clinical features;Ganesan;Pediatr Neurol,1997
4. Knaap v d MS, Verhoeven NM, Struys E, Pouwels PJW, Jakobs C. Mental retardation and autism as presenting signs in creatine synthesis defect. J Inher Metab Dis 1998;21(2): 36 (abstract).
5. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis;Stöckler;Metabolism,1997
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