Fabiano de Oliveira Poswar

Insights into morbidity and mortality in Gaucher disease: a cohort study

Background Gaucher disease (GD) is a rare lysosomal disorder classified, on the basis of neurological involvement, into type 1 (GD1, non-neuronopathic) and types 2 (GD2) and 3 (GD3) (neuronopathic). Data on morbidity and mortality in Latin American cohorts remain scarce. Aims To...

Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐ DS ): New Insights From a Brazilian Cohort of Patients

ABSTRACT Glucose transporter deficiency syndrome type 1 (Glut1‐DS) is a rare neurometabolic disorder caused by pathogenic variants in SLC2A1 , characterized by epilepsy, neurodevelopmental delay, movement disorders, dysarthria, intellectual disability, and postnatal microcephaly....