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Arch Biochem Biophys 204:8087 Benight N, Burrin DG, Stoll B (2009) Intestinal metabolism of sulfur amino acids

A diagnosis of GSSD was finally made based on intractable metabolic acidosis, jaundice, hemolytic anemia, hyperbilirubinemia, massive 5-oxoprolinuria, and the presence of compound heterozygous variants in GSS

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