Condition: Gluthathione synthetase deficiency


rs121909307 in GSS gene and Gluthathione synthetase deficiency PMID 17479648 2007 Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.

PMID 25851806 2015 Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

PMID 15717202 2005 Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

PMID 8896573 1996 Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.

PMID 9215686 1997 Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

PMID 27581854 2016 Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.

rs1555889738 in GSS;MYH7B gene and Gluthathione synthetase deficiency PMID 15717202 2005 Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

PMID 14635114 2003 Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.