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Autor:
Silvera-Ruiz, Silene M, Gemperle, Corinne, Peano, Natalia, Olivero, Valentina, Becerra, Adriana, Häberle, Johannes, Gruppi, Adriana, Laróvere, Laura E, Motrich, Ruben D
Publikováno v:
Frontiers in Immunology. 13
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the SLC25A15 gene. Besides the well-known metabolic complications, patients often present interc