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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2023
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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 |