Associated Papers
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Jury J et al.
Clinical Genetics, 2024
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X et al.
Frontiers in Pediatrics, 2023
A case of severe glutathione synthetase deficiency with novel GSS mutations.
Xia H et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2018
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P et al.
Journal of Pediatric Hematology/oncology, 2018
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
Li X et al.
Brain & Development, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
Sykut-Cegielska J et al.
Journal of Inherited Metabolic Disease, 2005
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
Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.
Tokatli A et al.
The Turkish Journal of Pediatrics, 0
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