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

BACKGROUND: This study sought to analyze the clinical characteristics, biochemical metabolic indications, treatment results, and genetic spectrum of cerebral creatine deficiency syndrome (CCDS), estimate the prevalence of CCDS in Chinese children and provide a reference to guide clinical practice. M...

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Detalles Bibliográficos
Autores principales: Sun, Weihua, Wang, Yi, Wu, Mengyuan, Wu, Hongjiang, Peng, Xiaomin, Shi, Yingyan, Xiao, Feifan, Wu, Bingbing, Zhou, Wenhao, Lu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248938/
https://www.ncbi.nlm.nih.gov/pubmed/37305710
http://dx.doi.org/10.21037/tp-23-164