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Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases

BACKGROUND: Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, life achievements, and quality of life in adulthood. Clinic...

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Detalles Bibliográficos
Autores principales: Olivotto, Sara, Duse, Alessandra, Bova, Stefania Maria, Leonardi, Valeria, Biganzoli, Elia, Milanese, Alberto, Cereda, Cristina, Bertoli, Simona, Previtali, Roberto, Veggiotti, Pierangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509642/
https://www.ncbi.nlm.nih.gov/pubmed/36153584
http://dx.doi.org/10.1186/s13023-022-02513-4