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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

F. Poswar

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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. · 0 citations
Open access Aug 2026

Clinical and Genetic Spectrum of ATP1A3-Related Disorders

The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.

Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al. · 0 citations

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