Article
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.
Orphanet journal of rare diseases - 24 Sept 2022
Olivotto Sara, Duse Alessandra, Bova Stefania Maria, Leonardi Valeria, Biganzoli Elia, Milanese Alberto, Cereda Cristina, Bertoli Simona, Previtali Roberto, Veggiotti Pierangelo
Abstract excerpt
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. Clinical, biochemical and genetic data in a cohort of familial Glut1-DS cases were collected from medical records....
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