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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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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2017
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| Soggetti: | |
| Accesso online: | 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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