- Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh
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Rahman MM, Fatema K
- KMID: 2517211
- J Genet Med.
- 2021 Jun;18(1):44-47.
- doi: 10.5734/JGM.2021.18.1.44
Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of... -
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