Open access
Aug 2026
Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐DS): New Insights From a Brazilian Cohort of Patients
Findings expand the phenotypic and genotypic spectrum of Glut1‐DS, highlight the high proportion of previously unreported SLC2A1 variants in the Brazilian population, and reinforce the importance of comprehensive genetic evaluation and counseling for affected families.
Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, C. Lorea et al.
· JIMD Reports · 0 citations