Sep 2026
Hematologic manifestations of sitosterolemia: Phenotypic spectrum and long-term outcomes in seven genetically confirmed patients.
BACKGROUND Sitosterolemia is a rare autosomal recessive lipid metabolism disorder caused by pathogenic variants in ABCG5 or ABCG8 genes. Although classically associated with xanthomas and premature atherosclerosis, some patients may predominantly present with hematologic manifestations, leading to significant diagnosti...
Harshal Mamlekar, Prisha Nankana, Mona Vijayran et al.
· Blood Cells, Molecules & Dis... · 0 citations