New insights into creatine transporter deficiency Identification of neuropathological and metabolic targets for treatment

Creatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads...

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Autore principale: molinaro, angela (auth)
Natura: Elettronico Capitolo di libro
Lingua:inglese
Pubblicazione: Florence Firenze University Press 2020
Serie:Premio Tesi di Dottorato
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