Pathophysiology of immune-related complications in Lysinuric Protein Intolerance 

Sotillo Rodríguez, Fernando (Date of defense: 2018-02-16)

Lysinuric Protein Intolerance (LPI, MIM #222700) is a rare autosomic disease caused by mutations in SLC7A7 gene. Hallmarks of LPI are malabsorption and deficient renal reabsorption of cationic amino acids, which drives a ...