Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

Introduction. Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and...

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Publicado en:JIMD Rep
Main Authors: Berends, Lisette M., Struys, Eduard A., Roos, Birthe, Holwerda, Ulbe, Jansen, Erwin E. W., Salomons, Gajja S., Wamelink, Mirjam M. C.
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740046/
https://ncbi.nlm.nih.gov/pubmed/28220408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_4
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