GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

BACKGROUND: GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights and real-world data on rare diseases. OBJECTIVE: To descri...

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Detalles Bibliográficos
Autores principales: Varesio, Costanza, De Giorgis, Valentina, Veggiotti, Pierangelo, Nardocci, Nardo, Granata, Tiziana, Ragona, Francesca, Pasca, Ludovica, Mensi, Martina Maria, Borgatti, Renato, Olivotto, Sara, Previtali, Roberto, Riva, Antonella, Mancardi, Maria Margherita, Striano, Pasquale, Cavallin, Mara, Guerrini, Renzo, Operto, Francesca Felicia, Pizzolato, Alice, Di Maulo, Ruggero, Martino, Fabiola, Lodi, Andrea, Marini, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029278/
https://www.ncbi.nlm.nih.gov/pubmed/36944981
http://dx.doi.org/10.1186/s13023-023-02628-2

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