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EnglishWe describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. Creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities.
| Autori interni: | |
| Autori: | Bianchi, Mc; Tosetti, M; Fornai, F; Alessandri', Mg; Cipriani, P; De Vito, G; Canapicchi, R |
| Titolo: | Reversible brain creatine deficiency in two sisters with normal blood creatine level |
| Anno del prodotto: | 2000 |
| Abstract: | We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. Creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities. |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| Bianchi et al. Annals Neurol.pdf | Versione finale editoriale | NON PUBBLICO - Accesso privato/ristretto | Utenti riconosciuti Richiedi una copia |
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