Browsing by Author "Lupski, James R."

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    • Immune dysregulation mimicking systemic lupus erythematosus in a patient with lysinuric protein intolerance: ... 
      Longeri Contreras, Josefina; Ladino Ramírez, Mabel Aurora; Aránguiz, Katherine; Méndez, Gonzalo; Cobán Akdemir, Zeynep; Yuan, Bo; Gibbs, Richard A.; Burrage, Lindsay C.; Lupski, James R.; Chinn, Ivan K.; Vogel, Tiphanie P.; Orange, Jordan S.; Poli Harlowe, María Cecilia Berta (Frontiers Media, 2021)
      Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells ...