Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.

Weihua Sun,Yi Wang,Mengyuan Wu,Hongjiang Wu,Xiaomin Peng,Yingyan Shi,Feifan Xiao,Bingbing Wu,Wenhao Zhou,Wei Lu

Translational pediatrics（2023）

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摘要

The prevalence of CCDS is ~0.39% in Chinese children with developmental delay. A low-protein diet, Cr and, ornithine were useful for patients with deficiency. Male patients with deficiency showed only limited improvement on combined therapy.

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cerebral creatine deficiency syndrome

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