Titlebook: Creatine and Creatine Kinase in Health and Disease; Gajja S. Salomons,Markus Wyss Book 2007 Springer Science+Business Media B.V. 2007 bios

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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