1 |
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
61
6
57
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Shi ZZ...Lieberman MW
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8896573 |
1996 |
2 |
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
57
61
54
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Njalsson R...Norgren S
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15717202 |
2005 |
3 |
Long-term clinical outcome in patients with glutathione synthetase deficiency.
57
54
61
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Ristoff E...Larsson A
|
11445798 |
2001 |
4 |
Prenatal analysis in two suspected cases of glutathione synthetase deficiency.
61
54
57
|
Erasmus E...Larsson A
|
8295398 |
1993 |
5 |
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.
57
61
54
|
Divry P...Larsson A
|
1770788 |
1991 |
6 |
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
6
61
|
Corrons JL...Beutler E
|
11167850 |
2001 |
7 |
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
57
61
|
Martensson J...Larsson A
|
2502672 |
1989 |
8 |
Protection of granulocytes by vitamin E in glutathione synthetase deficiency.
57
61
|
Boxer LA...Schulman JD
|
481537 |
1979 |
9 |
Oxidative damage to neutrophils in glutathione synthetase deficiency.
61
57
|
Spielberg SP...Schulman JD
|
465367 |
1979 |
10 |
[A family with pyroglutamic aciduria (author's transl)].
61
57
|
Porath U...Schreier K
|
657978 |
1978 |
11 |
Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism.
57
61
|
Larsson A...Hornell H
|
4415411 |
1974 |
12 |
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
57
61
|
Wellner VP...Larsson A
|
4152248 |
1974 |
13 |
Pyroglutamic aciduria--a new inborn error of metabolism.
61
57
|
Jellum E...Eldjarn L
|
5486400 |
1970 |
14 |
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease.
6
61
|
Mohler DN...Garrick MD
|
5476481 |
1970 |
15 |
Prenatal diagnosis of glutathione synthase deficiency.
57
|
Manning NJ...Carlsson B
|
7937585 |
1994 |
16 |
5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis.
57
|
Robertson PL...Muenzer J
|
1986110 |
1991 |
17 |
5-oxoprolinuria: biochemical observations and case report.
57
|
Spielberg SP...Schulman JD
|
874680 |
1977 |
18 |
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
54
61
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Burstedt MS...Wachtmeister L
|
19111905 |
2009 |
19 |
Inborn errors in the metabolism of glutathione.
54
61
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Ristoff E...Larsson A
|
17397529 |
2007 |
20 |
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
54
61
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Ristoff E...Wachtmeister L
|
17206463 |
2007 |
21 |
Glutathione synthetase deficiency.
54
61
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Njalsson R
|
15990954 |
2005 |
22 |
Physiological and pathological aspects of GSH metabolism.
61
54
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Njalsson R...Norgren S
|
15981742 |
2005 |
23 |
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
54
61
|
Sykut-Cegielska J...Pronicka E
|
16435214 |
2005 |
24 |
[Gluthathion synthetase deficit in a newborn infant].
54
61
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Fily A...Kacet N
|
15519833 |
2004 |
25 |
Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency.
54
61
|
Mayatepek E...Grobe H
|
15243994 |
2004 |
26 |
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency.
61
54
|
Okun JG...Mayatepek E
|
15617191 |
2004 |
27 |
Glutathione synthetase deficiency associated with antenatal cerebral bleeding.
54
61
|
Bruggemann LW...de Koning TJ
|
15243982 |
2004 |
28 |
A newborn infant with generalized glutathione synthetase deficiency.
54
61
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Yapicioglu H...Topaloglu AK
|
15074378 |
2004 |
29 |
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
61
54
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Njalsson R...Norgren S
|
14635114 |
2003 |
30 |
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
61
54
|
Ristoff E...Larsson A
|
12638941 |
2002 |
31 |
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
54
61
|
Njalsson R...Larsson A
|
10861239 |
2000 |
32 |
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency.
54
61
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Mayatepek E...Hoffmann GF
|
10686285 |
2000 |
33 |
Generalized glutathione synthetase deficiency and pregnancy.
54
61
|
Ristoff E...Larsson A
|
10472538 |
1999 |
34 |
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.
61
54
|
Polekhina G...Parker MW
|
10369661 |
1999 |
35 |
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
54
61
|
Al-Jishi E...Kambouris M
|
10450861 |
1999 |
36 |
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
54
61
|
Mayatepek E
|
10094443 |
1999 |
37 |
Patients with genetic defects in the gamma-glutamyl cycle.
61
54
|
Ristoff E...Larsson A
|
9679548 |
1998 |
38 |
[Biochemical and molecular bases of glutathione synthetase deficiency].
54
61
|
Kanno H
|
9590072 |
1998 |
39 |
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts.
61
54
|
DeLeve LD
|
9093395 |
1997 |
40 |
[Glutathione synthetase deficiency].
61
54
|
Iyori H...Miwa S
|
8847804 |
1996 |
41 |
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
61
54
|
Hirono A...Miwa S
|
8634459 |
1996 |
42 |
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.
61
54
|
Webb GC...Board PG
|
8825653 |
1995 |
43 |
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
54
61
|
Lloyd AJ...Green A
|
7623442 |
1995 |
44 |
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency.
54
61
|
Mayatepek E...Becker K
|
8190517 |
1994 |
45 |
Glutathione synthetase deficiency: a family report.
61
54
|
Pejaver RK...Watson AH
|
8158601 |
1994 |
46 |
High-dose vitamin E therapy in glutathione synthetase deficiency.
61
54
|
Pejaver RK...Watson AH
|
7707700 |
1994 |
47 |
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency.
61
54
|
Mayatepek E...Hoffmann GF
|
8088946 |
1993 |
48 |
5-Oxoprolinuria due to glutathione synthetase deficiency.
54
61
|
Pejaver RK...Watson AH
|
1293394 |
1992 |
49 |
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
54
61
|
Jellum E...Time E
|
1761630 |
1991 |
50 |
Cholesterol synthesis in patients with glutathione deficiency.
61
54
|
Gustafsson J...Larsson A
|
2121508 |
1990 |