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    • Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis 

      Giroud Gerbetant, Judith; Sotillo, Fernando; Hernández, Gonzalo; Ruano, Irene; Sebastián, David; Fort, Joana; Sanchez-Fernandez, Mayka; Weiss, Günter; Prats, Neus; Zorzano, Antonio; Palacín, Manuel; Bodoy, Susanna (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 ...