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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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Highly Cited
2015
Highly Cited
2015
Glutamate metabolism plays a vital role in biosynthesis of nucleic acids and proteins. It is also associated with a number of… 
Review
2012
Review
2012
Pyroglutamic acid or 5-oxoproline is the cyclic lactam of glutamic acid. Its presence in living cells has been reported from… 
Review
2006
Review
2006
The endogenous organic acid metabolic acidoses that occur commonly in adults include lactic acidosis; ketoacidosis; acidosis that… 
Review
2004
Review
2004
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the… 
Highly Cited
1999
Highly Cited
1999
Glutathione synthetase (GS) catalyses the production of glutathione from γ‐glutamylcysteine and glycine in an ATP‐dependent… 
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… 
Highly Cited
1979
Highly Cited
1979
The administration of vitamin E (alpha-tocopherol) was found to improve polymorphonuclear leukocyte function in an infant with… 
Highly Cited
1975
Highly Cited
1974
Highly Cited
1974
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria… 
Highly Cited
1972
Highly Cited
1972
Abstract In some families with hemolytic anemia and a low level of reduced glutathione in erythrocytes, the disorder is…