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… (More)

Topic mentions per year

Topic mentions per year

1970-2018
024619702018

Papers overview

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2005
2005
A rare cause of high anion gap acidosis is 5-oxoproline (pyroglutamic acid), an organic acid intermediate of the gamma-glutamyl… (More)
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2000
2000
OBJECTIVE To report four cases of pyroglutamic acidemia in adults causing clinically significant acidosis. DATA SOURCES… (More)
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1999
1999
Glutathione synthetase (GS) catalyses the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent… (More)
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1998
1998
We describe biochemical and clinical features of 11 subjects (ages, 1.2-84 years, nine females and two males) with transient 5… (More)
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1998
1998
5-Oxoprolinuria is a recognized condition with increased urinary excretion of 5-oxoproline and is associated with a variety of… (More)
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1997
1997
Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma… (More)
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Highly Cited
1996
Highly Cited
1996
CASE REPORT The patient was a boy born in June, 1990. The proband's father had a history of nonspherocytic hemolytic anemia. The… (More)
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1994
1994
Although spin-echo techniques are often used to obtain 1H-NMR spectra of serum or plasma samples, they do not provide reliable… (More)
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1993
1993
The urine of rats fed on 1% paracetamol in the diet for up to 10 weeks was analysed using 500 MHz 1H NMR spectroscopy. After 3… (More)
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1974
1974
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria… (More)
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