A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and autis...
| मुख्य लेखकों: | , |
|---|---|
| स्वरूप: | लेख |
| भाषा: | English |
| प्रकाशित: |
Hacettepe University Institute of Child Health
2019-02-01
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| श्रृंखला: | The Turkish Journal of Pediatrics |
| विषय: | |
| ऑनलाइन पहुंच: | https://turkjpediatr.org/article/view/656 |