Visualitzant per matèria "Rare disease"
Ara mostrant els elements 1-2 de 2
-
Characterization of new mutations in transferrin, DMT1 and SEC23B causing rare iron metabolism-related diseases; and the discovery of RACGAP1 as the gene responsible for autosomal recessive congenital dyserythropoietic anaemia type III
(Data de defensa: 2023-11-25)Iron is a biometal involved in many physiological processes that are essential for life. Iron metabolism is a complex and tightly regulated process both at the systemic and cellular level. Proper iron ... -
Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
(Molecular Medicine, 2025)Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment ...