-
1
-
-
0002684621
-
Glutathione synthetase deficiency and other disorders of the γ-glutamyl cycle
-
C.F. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw Hill
-
Meister A., Larsson A. Glutathione synthetase deficiency and other disorders of the γ-glutamyl cycle. Scriver C.F., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 7th:1995;1461-1477 McGraw Hill, New York.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease 7th
, pp. 1461-1477
-
-
Meister, A.1
Larsson, A.2
-
2
-
-
0015512194
-
Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia
-
Konrad P.N., Richards II F., Valentine W.N., Paglia D.E. Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia. New Engl. J. Med. 286:1972;557-561.
-
(1972)
New Engl. J. Med.
, vol.286
, pp. 557-561
-
-
Konrad, P.N.1
Richards F. II2
Valentine, W.N.3
Paglia, D.E.4
-
3
-
-
0025095668
-
γ-Glutamylcysteine synthetase deficiency and hemolytic anemia
-
Beutler E., Moroose R., Kramer L., Gelbart T., Forman L. γ-Glutamylcysteine synthetase deficiency and hemolytic anemia. Blood. 75:1990;271-273.
-
(1990)
Blood
, vol.75
, pp. 271-273
-
-
Beutler, E.1
Moroose, R.2
Kramer, L.3
Gelbart, T.4
Forman, L.5
-
4
-
-
0030029229
-
Three cases of hereditary non-spherocytic hemolytic anemia associated with red blood cell glutathione deficiency
-
Hirono A., Iyori H., Sekine I., Ueyama J., Chiba H., Kanno H., Fujii H., Miwa S. Three cases of hereditary non-spherocytic hemolytic anemia associated with red blood cell glutathione deficiency. Blood. 87:1996;2071-2074.
-
(1996)
Blood
, vol.87
, pp. 2071-2074
-
-
Hirono, A.1
Iyori, H.2
Sekine, I.3
Ueyama, J.4
Chiba, H.5
Kanno, H.6
Fujii, H.7
Miwa, S.8
-
5
-
-
0029016313
-
Assignment of the human gene (GLCLC) that encodes the heavy subunit of γ-glutamylcysteine synthetase to human chromosome 6
-
Sierra-Rivera E., Summar M.L., Dasouki M., Krishnamani M.R.S., Phillips J.A., Freeman M.L. Assignment of the human gene (GLCLC) that encodes the heavy subunit of γ-glutamylcysteine synthetase to human chromosome 6. Cytogenet. Cell Genet. 70:1995;278-279.
-
(1995)
Cytogenet. Cell Genet.
, vol.70
, pp. 278-279
-
-
Sierra-Rivera, E.1
Summar, M.L.2
Dasouki, M.3
Krishnamani, M.R.S.4
Phillips, J.A.5
Freeman, M.L.6
-
6
-
-
0029996429
-
Assignment of the human gene (GLCLR) that encodes the regulatory subunit of γ-glutamyl-cysteine synthetase to chromosome 1p21
-
Sierra-Rivera E., Dasouki M., Summar M.L., Krishnamani M.R.S., Meredith M., Rao P.N., Phillipsiii J.A., Freeman M.L. Assignment of the human gene (GLCLR) that encodes the regulatory subunit of γ-glutamyl-cysteine synthetase to chromosome 1p21. Cytogenet. Cell Genet. 72:1996;252-254.
-
(1996)
Cytogenet. Cell Genet.
, vol.72
, pp. 252-254
-
-
Sierra-Rivera, E.1
Dasouki, M.2
Summar, M.L.3
Krishnamani, M.R.S.4
Meredith, M.5
Rao, P.N.6
Phillipsiii, J.A.7
Freeman, M.L.8
-
7
-
-
0026689502
-
Cloning and nucleotide sequence of a full-length cDNA for human liver gamma-glutamylcysteine synthetase
-
Gipp J.J., Chang C., Mulcahy R.T. Cloning and nucleotide sequence of a full-length cDNA for human liver gamma-glutamylcysteine synthetase. Biochem. Biophys. Res. Commun. 185:1992;29-35.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.185
, pp. 29-35
-
-
Gipp, J.J.1
Chang, C.2
Mulcahy, R.T.3
-
8
-
-
0028959153
-
Cloning and sequencing of the cDNA for the light subunit of human liver γ-glutamylcysteine synthetase and relative mRNA levels for heavy and light subunits in human normal tissues
-
Gipp J.J., Bailey H.H., Mulcahy R.T. Cloning and sequencing of the cDNA for the light subunit of human liver γ-glutamylcysteine synthetase and relative mRNA levels for heavy and light subunits in human normal tissues. Biochem. Biophys. Res. Commun. 206:1995;584-589.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.206
, pp. 584-589
-
-
Gipp, J.J.1
Bailey, H.H.2
Mulcahy, R.T.3
-
9
-
-
0025091990
-
Amino acid sequence of rat kidney γ-glutamylcysteine synthetase
-
Yan N., Meister A. Amino acid sequence of rat kidney γ-glutamylcysteine synthetase. J. Biol. Chem. 265:1990;1588-1593.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 1588-1593
-
-
Yan, N.1
Meister, A.2
-
10
-
-
0027171195
-
Catalytic and regulatory properties of the heavy subunit of rat kidney γ-glutamylcysteine synthetase
-
Huang C-S., Anderson M.E., Meister A. Catalytic and regulatory properties of the heavy subunit of rat kidney γ-glutamylcysteine synthetase. J. Biol. Chem. 265:1993;19675-19680.
-
(1993)
J. Biol. Chem.
, vol.265
, pp. 19675-19680
-
-
Huang, C-S.1
Anderson, M.E.2
Meister, A.3
-
11
-
-
0027227925
-
Amino acid sequence and function of the light subunit of rat kidney γ-glutamylcysteine synthetase
-
Huang C.-S., Chang L.-S., Anderson M.E., Meister A. Amino acid sequence and function of the light subunit of rat kidney γ-glutamylcysteine synthetase. J. Biol. Chem. 268:1993;20578-20583.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 20578-20583
-
-
Huang, C.-S.1
Chang, L.-S.2
Anderson, M.E.3
Meister, A.4
-
12
-
-
84942560730
-
Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency
-
Richards II F., Cooper M.R., Pearce L.A., Cowan R.J., Spurr C.L. Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency. Arch. Intern. Med. 134:1974;534-537.
-
(1974)
Arch. Intern. Med.
, vol.134
, pp. 534-537
-
-
Richards F. II1
Cooper, M.R.2
Pearce, L.A.3
Cowan, R.J.4
Spurr, C.L.5
-
13
-
-
0014876254
-
The γ-glutamyl cycle: A possible transport system for amino acid
-
Orlowski M., Meister A. The γ-glutamyl cycle: a possible transport system for amino acid. Proc. Natl. Acad. Sci. USA. 67:1970;1248-1255.
-
(1970)
Proc. Natl. Acad. Sci. USA
, vol.67
, pp. 1248-1255
-
-
Orlowski, M.1
Meister, A.2
-
14
-
-
0013879131
-
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes
-
Prins H.K., Oort M., Loos J.A., Zürcher C., Beckers T. Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Blood. 27:1966;145-166.
-
(1966)
Blood
, vol.27
, pp. 145-166
-
-
Prins, H.K.1
Oort, M.2
Loos, J.A.3
Zürcher, C.4
Beckers, T.5
-
15
-
-
0014911296
-
Pyroglutamic aciduria - A new inborn error of metabolism
-
Jellum E., Kluge T., Börresen H.C., Stokke O., Eldjarn L. Pyroglutamic aciduria - a new inborn error of metabolism. Scand. J. Clin. Lab. Invest. 26:1970;327-335.
-
(1970)
Scand. J. Clin. Lab. Invest.
, vol.26
, pp. 327-335
-
-
Jellum, E.1
Kluge, T.2
Börresen, H.C.3
Stokke, O.4
Eldjarn, L.5
-
16
-
-
0010476393
-
Sequencing and expression of a cDNA for human glutathione synthetase
-
Gali R.R., Board P.G. Sequencing and expression of a cDNA for human glutathione synthetase. J. Biochem. 310:1995;553-558.
-
(1995)
J. Biochem.
, vol.310
, pp. 553-558
-
-
Gali, R.R.1
Board, P.G.2
-
19
-
-
0029609384
-
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2
-
Webb GC, Vaska VL, Gali RR, Ford JH, Board PG The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. Genomics. 30:1995;617-619.
-
(1995)
Genomics
, vol.30
, pp. 617-619
-
-
Webb, G.C.1
Vaska, V.L.2
Gali, R.R.3
Ford, J.H.4
Board, P.G.5
-
20
-
-
0001761022
-
Hereditary absence of reduced glutathione in erythrocytes - A new clinical and biochemical entiety?
-
Oort M., Loos J.A., Prins H.R. Hereditary absence of reduced glutathione in erythrocytes - A new clinical and biochemical entiety? Vox. Sang. 6:1961;370.
-
(1961)
Vox. Sang.
, vol.6
, pp. 370
-
-
Oort, M.1
Loos, J.A.2
Prins, H.R.3
-
21
-
-
0014931817
-
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease
-
Mohler D.N., Majerus P.W., Minnich V., Hess C.E., Garrick M.D. Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. New Engl. J. Med. 283:1970;1253.
-
(1970)
New Engl. J. Med.
, vol.283
, pp. 1253
-
-
Mohler, D.N.1
Majerus, P.W.2
Minnich, V.3
Hess, C.E.4
Garrick, M.D.5
-
22
-
-
0022570709
-
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency
-
Beutler E., Gelbart T., Pegelow C. Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. J. Clin. Invest. 77:1986;38-41.
-
(1986)
J. Clin. Invest.
, vol.77
, pp. 38-41
-
-
Beutler, E.1
Gelbart, T.2
Pegelow, C.3
-
23
-
-
0019198663
-
The cerebral lesions in a patient with generalized glutathione synthetase deficiency and pyroglutamic aciduria (5-oxoprolinuria)
-
Skullerud K., Marstein S., Schrader H., Brundelet P.J., Jellum E. The cerebral lesions in a patient with generalized glutathione synthetase deficiency and pyroglutamic aciduria (5-oxoprolinuria). Acta Neuropathol. 52:1980;235-238.
-
(1980)
Acta Neuropathol.
, vol.52
, pp. 235-238
-
-
Skullerud, K.1
Marstein, S.2
Schrader, H.3
Brundelet, P.J.4
Jellum, E.5
-
24
-
-
0030292360
-
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
-
Shi Z.-Z., Habib G.M., Rhead W.J., Gahl W.A., He X., Sazer S., Lieberman M.W. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat. Genet. 14:1996;361-365.
-
(1996)
Nat. Genet.
, vol.14
, pp. 361-365
-
-
Shi, Z.-Z.1
Habib, G.M.2
Rhead, W.J.3
Gahl, W.A.4
He, X.5
Sazer, S.6
Lieberman, M.W.7
-
25
-
-
0030876935
-
Missense mutations in human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
-
Dahl N., Pigg M., Ristoff E., Gali R.R., Carlsson B., Mannervik B., Larsson A., Board P.G. Missense mutations in human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum. Mol. Genet. 6:1997;1147-1152.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1147-1152
-
-
Dahl, N.1
Pigg, M.2
Ristoff, E.3
Gali, R.R.4
Carlsson, B.5
Mannervik, B.6
Larsson, A.7
Board, P.G.8
-
26
-
-
0028963680
-
Tyrosinemia type I and glutathione synthetase deficiency: Two disorders with reduced hepatic thiol group concentration and a liver 4-fumarylacetoacetat hydrolase deficiency
-
Lloyd A.J., Gray R.G.F., Green A. Tyrosinemia type I and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentration and a liver 4-fumarylacetoacetat hydrolase deficiency. J. Inherit. Metab. Dis. 18(1):1995;48-55.
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, Issue.1
, pp. 48-55
-
-
Lloyd, A.J.1
Gray, R.G.F.2
Green, A.3
-
28
-
-
0015244954
-
Serum γ-glutamyl transpeptidase deficiency
-
Goodman S.I., Mace J.W., Pollack S. Serum γ-glutamyl transpeptidase deficiency. Lancet. 1(692):1971;234-235.
-
(1971)
Lancet
, vol.1
, Issue.692
, pp. 234-235
-
-
Goodman, S.I.1
MacE, J.W.2
Pollack, S.3
-
31
-
-
0019486432
-
5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers - A new inborn error of the γ-glutamyl cycle
-
Larsson A., Mattsson B., Wauters E.A.K., Van Gool J.D., Duran M., Wadman S.K. 5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers - a new inborn error of the γ-glutamyl cycle. Acta Paediatr. Scand. 70:1981;301-308.
-
(1981)
Acta Paediatr. Scand.
, vol.70
, pp. 301-308
-
-
Larsson, A.1
Mattsson, B.2
Wauters, E.A.K.3
Van Gool, J.D.4
Duran, M.5
Wadman, S.K.6
-
32
-
-
0019827385
-
Pyroglutamic acid uria (5-oxoprolinuria) without glutathione sythetase deficiency and with decreased pyroglutamate hydrolase activity
-
Roesel R.A., Hommes F.A., Samper L. Pyroglutamic acid uria (5-oxoprolinuria) without glutathione sythetase deficiency and with decreased pyroglutamate hydrolase activity. J. Inherit. Metab. Dis. 4:1981;89-90.
-
(1981)
J. Inherit. Metab. Dis.
, vol.4
, pp. 89-90
-
-
Roesel, R.A.1
Hommes, F.A.2
Samper, L.3
-
34
-
-
0028897735
-
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anemia
-
Mayatepek E., Hoffmann G.F., Larsson A., Becker K., Bremer H.J. 5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anemia. J. Inherit. Metab. Dis. 18:1995;83-84.
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 83-84
-
-
Mayatepek, E.1
Hoffmann, G.F.2
Larsson, A.3
Becker, K.4
Bremer, H.J.5
-
35
-
-
14444270881
-
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency
-
Cohen L.H.F., Vamos E., Heinrichs C., Toppet M., Courtens W., Kumps A., Mardens Y., Carlsson B., Grillner L., Larsson A. Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency. Europ. J. Ped. 156:1997;935-938.
-
(1997)
Europ. J. Ped.
, vol.156
, pp. 935-938
-
-
Cohen, L.H.F.1
Vamos, E.2
Heinrichs, C.3
Toppet, M.4
Courtens, W.5
Kumps, A.6
Mardens, Y.7
Carlsson, B.8
Grillner, L.9
Larsson, A.10
-
36
-
-
0027299758
-
Asymptomatic 5-oxoprolinuria detected by proton magnetic resonance spectroscopy
-
Ghauri F.Y.K., Parkes H.G., Nicholson J.K. Asymptomatic 5-oxoprolinuria detected by proton magnetic resonance spectroscopy. Clin. Chem. 39:1993;1341.
-
(1993)
Clin. Chem.
, vol.39
, pp. 1341
-
-
Ghauri, F.Y.K.1
Parkes, H.G.2
Nicholson, J.K.3
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