Gluthathione synthetase deficiency
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A rare cause of high anion gap acidosis is 5-oxoproline (pyroglutamic acid), an organic acid intermediate of the gamma-glutamyl… (More)
- Critical care medicine
To report four cases of pyroglutamic acidemia in adults causing clinically significant acidosis.
DATA SOURCES… (More)
Glutathione synthetase (GS) catalyses the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent… (More)
We describe biochemical and clinical features of 11 subjects (ages, 1.2-84 years, nine females and two males) with transient 5… (More)
5-Oxoprolinuria is a recognized condition with increased urinary excretion of 5-oxoproline and is associated with a variety of… (More)
- Human molecular genetics
Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma… (More)
The patient was a boy born in June, 1990. The proband's father had a history of nonspherocytic hemolytic anemia. The… (More)
Although spin-echo techniques are often used to obtain 1H-NMR spectra of serum or plasma samples, they do not provide reliable… (More)
- Biochemical pharmacology
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)
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria… (More)