-
1
-
-
0001939584
-
Pyruvate kinase and other enzymopathies of the erythrocyte
-
Scriver, C, RBeaudet, A, LSly, W, SValle, D, New York, McGraw-Hill, Inc. 3511
-
Tanaka, K, R, Paglia, D, E, Pyruvate kinase and other enzymopathies of the erythrocyte, Scriver, C, RBeaudet, A, LSly, W, SValle, D, The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, Inc. 3485, 3511, 1995.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3485
-
-
Tanaka, K.R.1
Paglia, D.E.2
-
2
-
-
0014321644
-
Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency- A new enzyme defect of human erythrocytes
-
Baughan M A, Valentine W N, Paglia D E, Ways P O, Simons E R, DeMarsh Q B. Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency- a new enzyme defect of human erythrocytes. Blood. 32:1968;236-249.
-
(1968)
Blood
, vol.32
, pp. 236-249
-
-
Baughan, M.A.1
Valentine, W.N.2
Paglia, D.E.3
Ways, P.O.4
Simons, E.R.5
Demarsh, Q.B.6
-
3
-
-
0023032240
-
Molecular cloning and expression of neuroleukin, a neurotrophic factor for spinal and sensory neurons
-
Gurney M E, Heinrich S P, Lee M R, Yin H-S. Molecular cloning and expression of neuroleukin, a neurotrophic factor for spinal and sensory neurons. Science. 234:1986;566-573.
-
(1986)
Science
, vol.234
, pp. 566-573
-
-
Gurney, M.E.1
Heinrich, S.P.2
Lee, M.R.3
Yin H-S4
-
4
-
-
0029898821
-
The differentiation and maturation mediator for human myeloid leukemia cells shares homology with neuroleukin or phosphoglucose isomerase
-
Xu W, Seiter K, Feldman E, Ahmed T, Chiao J W. The differentiation and maturation mediator for human myeloid leukemia cells shares homology with neuroleukin or phosphoglucose isomerase. Blood. 87:1996;4502-4506.
-
(1996)
Blood
, vol.87
, pp. 4502-4506
-
-
Xu, W.1
Seiter, K.2
Feldman, E.3
Ahmed, T.4
Chiao, J.W.5
-
5
-
-
0030021408
-
Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: Tabulation of mutant enzymes
-
Miwa S, Fujii H. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: Tabulation of mutant enzymes. Am J Hematol. 51:1996;122-132.
-
(1996)
Am J Hematol
, vol.51
, pp. 122-132
-
-
Miwa, S.1
Fujii, H.2
-
6
-
-
0025965939
-
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
-
Beutler E. Glucose-6-phosphate dehydrogenase (G6PD) deficiency. N Engl J Med. 324:1991;169-174.
-
(1991)
N Engl J Med
, vol.324
, pp. 169-174
-
-
Beutler, E.1
-
8
-
-
0016270749
-
Hereditary glucosephosphate isomerase deficiency-A review
-
Paglia D E, Valentine W N. Hereditary glucosephosphate isomerase deficiency-A review. Am J Clin Path. 62:1974;740-751.
-
(1974)
Am J Clin Path
, vol.62
, pp. 740-751
-
-
Paglia, D.E.1
Valentine, W.N.2
-
9
-
-
0029099402
-
Structure and organization of the human glucose phosphate isomerase gene (GPI)
-
Walker J IH, Morgan M J, Faik P. Structure and organization of the human glucose phosphate isomerase gene (GPI). Genomics. 29:1995;261-265.
-
(1995)
Genomics
, vol.29
, pp. 261-265
-
-
Walker, J.I.H.1
Morgan, M.J.2
Faik, P.3
-
10
-
-
0028791804
-
Human glucose phosphate isomerase: Exon mapping and gene structure
-
Xu W, Lee P, Beutler E. Human glucose phosphate isomerase: Exon mapping and gene structure. Genomics. 29:1995;732-739.
-
(1995)
Genomics
, vol.29
, pp. 732-739
-
-
Xu, W.1
Lee, P.2
Beutler, E.3
-
11
-
-
0027159445
-
DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency
-
Walker J I, Layton D M, Bellingham A J, Morgan M J, Faik P. DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. Hum Mol Genet. 2:1993;327-329.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 327-329
-
-
Walker, J.I.1
Layton, D.M.2
Bellingham, A.J.3
Morgan, M.J.4
Faik, P.5
-
12
-
-
0028135422
-
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia
-
Xu W, Beutler E. The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. J Clin Invest. 94:1994;2326-2329.
-
(1994)
J Clin Invest
, vol.94
, pp. 2326-2329
-
-
Xu, W.1
Beutler, E.2
-
13
-
-
0029820018
-
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia
-
Kanno H, Fujii H, Hirono A. Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. Blood. 88:1996;2321-2325.
-
(1996)
Blood
, vol.88
, pp. 2321-2325
-
-
Kanno, H.1
Fujii, H.2
Hirono, A.3
-
14
-
-
0029815711
-
Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia
-
Baronciani L, Zanella A, Bianchi P. Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. Blood. 88:1996;2306-2310.
-
(1996)
Blood
, vol.88
, pp. 2306-2310
-
-
Baronciani, L.1
Zanella, A.2
Bianchi, P.3
-
15
-
-
0030744663
-
Glucose phosphate isomerase deficiency: Biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia
-
Huppke P, Wunsch D, Pekrun A. Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia. Eur J Pediatr. 156:1997;605-609.
-
(1997)
Eur J Pediatr
, vol.156
, pp. 605-609
-
-
Huppke, P.1
Wunsch, D.2
Pekrun, A.3
-
16
-
-
0031409786
-
Glucosephosphate isomerase (GPI) deficiency mutation associated with hereditary nonspherocytic anemia (HNSHA)
-
Beutler E, West C, Britton H A, Harris J, Forman L. Glucosephosphate isomerase (GPI) deficiency mutation associated with hereditary nonspherocytic anemia (HNSHA). Blood Cells Mol Dis. 23:1997;402-409.
-
(1997)
Blood Cells Mol Dis
, vol.23
, pp. 402-409
-
-
Beutler, E.1
West, C.2
Britton, H.A.3
Harris, J.4
Forman, L.5
-
17
-
-
0014883521
-
Klinische und biochemische Untersuchungen zur Glucosephosphatisomerase normaler menschlicher Erythrozyten und bei Glucosephosphat-isomerase-Mangel
-
Arnold H, Blume K G, Busch D, Lenkeit U, Löhr G W, Lubs E. Klinische und biochemische Untersuchungen zur Glucosephosphatisomerase normaler menschlicher Erythrozyten und bei Glucosephosphat-isomerase-Mangel. Klin Wschr. 48:1970;1299-1308.
-
(1970)
Klin Wschr
, vol.48
, pp. 1299-1308
-
-
Arnold, H.1
Blume, K.G.2
Busch, D.3
Lenkeit, U.4
Löhr, G.W.5
Lubs, E.6
-
18
-
-
0015948148
-
Glucose phosphate isomerase deficiency with congenital nonspherocytic anemia: A new variant type Nordhorn
-
Arnold H, Blume K G, Löhr G W, Schröter W, Koch H H, Wonneberger B. Glucose phosphate isomerase deficiency with congenital nonspherocytic anemia: a new variant type Nordhorn. Pediatr Res. 8:1974;26-30.
-
(1974)
Pediatr Res
, vol.8
, pp. 26-30
-
-
Arnold, H.1
Blume, K.G.2
Löhr, G.W.3
Schröter, W.4
Koch, H.H.5
Wonneberger, B.6
-
19
-
-
0030221936
-
Hematologically important mutations: Molecular abnormalities of glucose phosphate isomerase deficiency
-
Fujii H, Kanno H, Hirono A, Miwa S. Hematologically important mutations: Molecular abnormalities of glucose phosphate isomerase deficiency. Blood Cells Mol Dis. 22:1996;96-97.
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 96-97
-
-
Fujii, H.1
Kanno, H.2
Hirono, A.3
Miwa, S.4
-
20
-
-
0017347447
-
International Committee for Standardization in Haematology: Recommended methods for red cell enzyme analysis
-
Beutler E, Blume K G, Kaplan J C, Löhr G W, Ramot B, Valentine W N. International Committee for Standardization in Haematology: Recommended methods for red cell enzyme analysis. Br J Haematol. 35:1977;331-340.
-
(1977)
Br J Haematol
, vol.35
, pp. 331-340
-
-
Beutler, E.1
Blume, K.G.2
Kaplan, J.C.3
Löhr, G.W.4
Ramot, B.5
Valentine, W.N.6
-
21
-
-
0016873788
-
Glucose-phosphate isomerase deficiency due to a new variant (GPI Barcelona) and to a silent gene: Biochemical, immunological and genetic studies
-
Kahn A, Vives J L, Bertrand O, Cottreau D, Marie J, Boivin P. Glucose-phosphate isomerase deficiency due to a new variant (GPI Barcelona) and to a silent gene: Biochemical, immunological and genetic studies. Clin Chim Acta. 66:1976;145.
-
(1976)
Clin Chim Acta
, vol.66
, pp. 145
-
-
Kahn, A.1
Vives, J.L.2
Bertrand, O.3
Cottreau, D.4
Marie, J.5
Boivin, P.6
-
22
-
-
0013828826
-
Studies on erythrocyte glycolysis. I. Determinations of the glycolytic intermediates in human erythrocytes
-
Minakami S, Suzuki C, Saito T, Yoshikawa H. Studies on erythrocyte glycolysis. I. Determinations of the glycolytic intermediates in human erythrocytes. J Biochem. 58:1965;543-556.
-
(1965)
J Biochem
, vol.58
, pp. 543-556
-
-
Minakami, S.1
Suzuki, C.2
Saito, T.3
Yoshikawa, H.4
-
23
-
-
0015240540
-
Phosphoglucose isomerase from human eruthrocyte
-
Tsuboi K T, Fukunaga K, Chervenka C H. Phosphoglucose isomerase from human eruthrocyte. J Biol Chem. 246:1971;7586-7594.
-
(1971)
J Biol Chem
, vol.246
, pp. 7586-7594
-
-
Tsuboi, K.T.1
Fukunaga, K.2
Chervenka, C.H.3
-
24
-
-
0016169412
-
A point mutation increasung the stability of human phosphoglucose isomerase
-
Tilley B E, Gracy R W, Welch S G. A point mutation increasung the stability of human phosphoglucose isomerase. J Biol Chem. 249:1974;4571-4579.
-
(1974)
J Biol Chem
, vol.249
, pp. 4571-4579
-
-
Tilley, B.E.1
Gracy, R.W.2
Welch, S.G.3
-
25
-
-
0025089111
-
Isolation and characterization of human glucose-6-phosphate isomerase isoforms containing two different size subunits
-
Sun A Q, Yuksel K U, Jacobson T M, Gracy R W. Isolation and characterization of human glucose-6-phosphate isomerase isoforms containing two different size subunits. Arch Biochem Biophys. 283:1990;120-129.
-
(1990)
Arch Biochem Biophys
, vol.283
, pp. 120-129
-
-
Sun, A.Q.1
Yuksel, K.U.2
Jacobson, T.M.3
Gracy, R.W.4
-
26
-
-
0026517708
-
Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia
-
Kanno H, Fujii H, Hirono A, Omine M, Miwa S. Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood. 79:1992;1347-1350.
-
(1992)
Blood
, vol.79
, pp. 1347-1350
-
-
Kanno, H.1
Fujii, H.2
Hirono, A.3
Omine, M.4
Miwa, S.5
-
27
-
-
0015620929
-
Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency
-
Nakashima K, Miwa S, Oda S. Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency. Am J Hum Genet. 25:1973;294-301.
-
(1973)
Am J Hum Genet
, vol.25
, pp. 294-301
-
-
Nakashima, K.1
Miwa, S.2
Oda, S.3
-
28
-
-
0028365568
-
Glucose phosphate isomerase (GPI) "morcone": A new variant from Italy
-
Alfinito F, Ferraro F, Rocco S. Glucose phosphate isomerase (GPI) "Morcone": A new variant from Italy. Eur J Haematol. 52:1994;263-266.
-
(1994)
Eur J Haematol
, vol.52
, pp. 263-266
-
-
Alfinito, F.1
Ferraro, F.2
Rocco, S.3
-
29
-
-
0018241587
-
A new mutant erythrocyte glucosephosphate isomerase (GPI) associated with GSH abnormality
-
Zanella A, Rebulla P, Izzo C. A new mutant erythrocyte glucosephosphate isomerase (GPI) associated with GSH abnormality. Am J Hemat. 5:1978;11-23.
-
(1978)
Am J Hemat
, vol.5
, pp. 11-23
-
-
Zanella, A.1
Rebulla, P.2
Izzo, C.3
-
30
-
-
0022378710
-
Generalized glucosephosphate isomerase (GPI) deficiency causing hemolytic anemia, neuromuscular symptoms and impairment of granulocytic function. A new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)
-
Schröter W, Eber S W, Bardosi A, Gahr M, Gabriel M, Sitzmann F C. Generalized glucosephosphate isomerase (GPI) deficiency causing hemolytic anemia, neuromuscular symptoms and impairment of granulocytic function. A new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg). Eur J Pediatr. 144:1985;301-305.
-
(1985)
Eur J Pediatr
, vol.144
, pp. 301-305
-
-
Schröter, W.1
Eber, S.W.2
Bardosi, A.3
Gahr, M.4
Gabriel, M.5
Sitzmann, F.C.6
-
31
-
-
0022654549
-
Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants
-
Eber S W, Gahr M, Lakomek M, Prindull G, Schröter W. Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants. Blut. 53:1986;21-28.
-
(1986)
Blut
, vol.53
, pp. 21-28
-
-
Eber, S.W.1
Gahr, M.2
Lakomek, M.3
Prindull, G.4
Schröter, W.5
-
32
-
-
0029034723
-
Variable effects of maturity-onset-diabetes-of youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme
-
Liang Y, Kesavan P, Wang L. Variable effects of maturity-onset-diabetes-of youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem J. 309:1995;167-173.
-
(1995)
Biochem J
, vol.309
, pp. 167-173
-
-
Liang, Y.1
Kesavan, P.2
Wang, L.3
-
33
-
-
0017851348
-
A new variant of glucosephosphate isomerase deficiency with mild haemolytic anaemia (GPI-Mytho)
-
Galand C, Torres M, Boivin P, Bourgeaud J P. A new variant of glucosephosphate isomerase deficiency with mild haemolytic anaemia (GPI-Mytho). Scand J Haematol. 20:1978;77-84.
-
(1978)
Scand J Haematol
, vol.20
, pp. 77-84
-
-
Galand, C.1
Torres, M.2
Boivin, P.3
Bourgeaud, J.P.4
-
34
-
-
0027215046
-
Low substrate affinity of pyruvate kinase variant (PK Sapporo) due to a single amino acid substitution (426Arg→Gln) associated with hereditary hemolytic anemia
-
Kanno H, Fujii H, Miwa S. Low substrate affinity of pyruvate kinase variant (PK Sapporo) due to a single amino acid substitution (426Arg→Gln) associated with hereditary hemolytic anemia. Blood. 81:1993;2439-2441.
-
(1993)
Blood
, vol.81
, pp. 2439-2441
-
-
Kanno, H.1
Fujii, H.2
Miwa, S.3
-
35
-
-
0018838821
-
Auguburg-type glucosephosphate isomerase deficiency
-
Arnold H, Löhr G W, Hasslinger K, Podgajny T. Auguburg-type glucosephosphate isomerase deficiency. Blut. 40:1980;107-115.
-
(1980)
Blut
, vol.40
, pp. 107-115
-
-
Arnold, H.1
Löhr, G.W.2
Hasslinger, K.3
Podgajny, T.4
-
36
-
-
0015801340
-
Glucosephosphate isomerase (GPI) deficiency hereditary hemolytic anemia
-
Miwa S, Nakashima K, Oda S. Glucosephosphate isomerase (GPI) deficiency hereditary hemolytic anemia. Acta Haematol Jpn. 36:1973;65-69.
-
(1973)
Acta Haematol Jpn
, vol.36
, pp. 65-69
-
-
Miwa, S.1
Nakashima, K.2
Oda, S.3
|