Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P et al.
Journal of Pediatric Hematology/oncology, 2018
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Signolet I et al.
Pediatrics, 2016
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
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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