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Gluthathione synthetase deficiency

Known as: Pyroglutamic Aciduria, 5-Oxoprolinuria, Deficiency of Glutathione Synthetase 
An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is… 
National Institutes of Health

Papers overview

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2004
2004
SummaryThe clinical and pathologic features of a male patient with generalized glutathione deficiency and pyroglutamic aciduria… 
Highly Cited
1981
Highly Cited
1981
Using the unwinding technique in weak alkali, the induction and repair of DNA single-strand breaks was determined after aerobic… 
1981
1981
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of… 
Highly Cited
1972
Highly Cited
1972
1972
1972
Intact fibroblasts cultured from skin biopsies from normal humans and from a patient with pyroglutamic aciduria were shown to… 
Highly Cited
1971
Highly Cited
1971
A system for multicomponent analyses of biological materials, using gas-liquid chromatography (GLC) for separation purpose, mass…