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Gluthathione synthetase deficiency
Known as:
Pyroglutamic Aciduria
, 5-Oxoprolinuria
, Deficiency of Glutathione Synthetase
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An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is…
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (2)
Amino Acid Metabolism, Inborn Errors
GLUTATHIONE SYNTHASE
Narrower (1)
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
congenital deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria)
K. Skullerud
,
S. Marstein
,
Harald Schrader
,
P. J. Brundelet
,
E. Jellum
Acta Neuropathologica
2004
Corpus ID: 1496473
SummaryThe clinical and pathologic features of a male patient with generalized glutathione deficiency and pyroglutamic aciduria…
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1994
1994
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency.
Ajey Jain
,
N. Buist
,
N. Kennaway
,
Berkley R. Powell
,
Peter A. M. Auld
,
Johannes Martensson
Jornal de Pediatria
1994
Corpus ID: 43411218
Highly Cited
1991
Highly Cited
1991
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
E. Jellum
,
A. K. Thorsrud
,
Ellen Time
Journal of Chromatography A
1991
Corpus ID: 29748842
Highly Cited
1981
Highly Cited
1981
Induction and repair of single-strand DNA breaks after X-irradiation of human fibroblasts deficient in glutathione.
Margareta Edgren
,
L. Révész
,
A. Larsson
International Journal of Radiation Biology and…
1981
Corpus ID: 21625986
Using the unwinding technique in weak alkali, the induction and repair of DNA single-strand breaks was determined after aerobic…
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1981
1981
Glutathione synthetase–deficient lymphocytes and acetaminophen toxicity
S. P. Spielberg
,
G. Gordon
Clinical pharmacology and therapy
1981
Corpus ID: 23458074
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of…
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1978
1978
The gamma-glutamyl cycle and amino acid transport. Studies of free amino acids, gamma-glutamyl-cysteine and glutathione in erythrocytes from patients with 5-oxoprolinuria (glutathione synthetase…
L. Hagenfeldt
,
A. Larsson
,
R. Andersson
New England Journal of Medicine
1978
Corpus ID: 35991282
EVIDENCE is accumulating that the tripeptide glutathione (γ-glutamyl-cysteinyL-glycine) participates in a variety of fundamental…
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1976
1976
Erythrocyte glutathione synthetase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes.
A. Larsson
,
R. Zetterström
,
H. Hörnell
,
U. Porath
Clinica chimica acta; international journal of…
1976
Corpus ID: 1223726
Highly Cited
1972
Highly Cited
1972
Pyroglutamic aciduria: studies on the enzymic block and on the metabolic origin of pyroglutamic acid.
L. Eldjarn
,
E. Jellum
,
O. Stokke
Clinica chimica acta; international journal of…
1972
Corpus ID: 33825164
1972
1972
The metabolism of L-pyroglutamic acid in fibroblasts from a patient with pyroglutamic aciduria: the demonstration of an L-pyroglutamate hydrolase system.
J. Strömme
,
L. Eldjarn
Scandinavian Journal of Clinical and Laboratory…
1972
Corpus ID: 30914612
Intact fibroblasts cultured from skin biopsies from normal humans and from a patient with pyroglutamic aciduria were shown to…
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Highly Cited
1971
Highly Cited
1971
Screening for metabolic disorders using gas-liquid chromatography, mass spectrometry, and computer technique.
E. Jellum
,
O. Stokke
,
L. Eldjarn
Scandinavian Journal of Clinical and Laboratory…
1971
Corpus ID: 41066357
A system for multicomponent analyses of biological materials, using gas-liquid chromatography (GLC) for separation purpose, mass…
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