散开 发表于 2025-3-30 11:47:14
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Cerebral Creatine Deficiency Syndromes: Clinical Aspects, Treatment and Pathophysiology,cted. The common clinical presentation in CCDS includes mental retardation, expressive speech and language delay, autistic like behaviour and epilepsy. Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment str