Associated Papers
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P et al.
Journal of Pediatric Hematology/oncology, 2018
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Njålsson R et al.
The Biochemical Journal, 2004
Long-term clinical outcome in patients with glutathione synthetase deficiency.
Ristoff E et al.
The Journal of Pediatrics, 2001
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL et al.
British Journal of Haematology, 2001
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
Njålsson R et al.
The Biochemical Journal, 2000
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Dahl N et al.
Human Molecular Genetics, 1997
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