Associated Papers
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Jury J et al.
Clinical Genetics, 2024
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.
Ekuni S et al.
The American Journal of Case Reports, 2023
Genetic Mutations in the S-loop of Human Glutathione Synthetase: Links Between Substrate Binding, Active Site Structure and Allostery.
Ingle BL et al.
Computational and Structural Biotechnology Journal, 2019
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P et al.
Journal of Pediatric Hematology/oncology, 2018
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
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Shi ZZ et al.
Nature Genetics, 1996
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