Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA). Patients affected develop neurological symptoms during childhood, such a...
| Hlavní autoři: | , |
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| Médium: | Článek |
| Jazyk: | English |
| Vydáno: |
SciELO
2016-10-01
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| Edice: | Journal of Inborn Errors of Metabolism and Screening |
| On-line přístup: | https://doi.org/10.1177/2326409816669371 |