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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Bibliografische gegevens
Hoofdauteur: molinaro, angela (auth)
Formaat: Elektronisch Hoofdstuk
Taal:Engels
Gepubliceerd in: Florence Firenze University Press 2020
Reeks:Premio Tesi di Dottorato 81
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