Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development

Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in the brain. So far, every patient was found wi...

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Bibliographic Details
Main Authors: Layane Hanna-El-Daher, Elidie Béard, Hugues Henry, Liliane Tenenbaum, Olivier Braissant
Format: Article
Language:English
Published: Elsevier 2015-07-01
Series:Neurobiology of Disease
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115001266