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.
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders / Costanza Varesio , Valentina De Giorgis , Pierangelo Veggiotti , Nardo Nardocci , Tiziana Granata , Francesca Ragona , Ludovica Pasca , Martina Maria Mensi , Renato Borgatti , Sara Olivotto , Roberto Previtali , Antonella Riva , Maria Margherita Mancardi , Pasquale Striano , Mara Cavallin , Renzo Guerrini , Francesca Felicia Operto , Alice Pizzolato , Ruggero Di Maulo , Fabiola Martino , Andrea Lodi , Carla Marini. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - ELETTRONICO. - (2023), pp. 18.63-18.63. [10.1186/s13023-023-02628-2]
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
Renzo Guerrini;
2023
Abstract
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.
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s13023-023-02628-2.pdf
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