-
2
-
-
0001126254
-
Pyruvate-kinase (PK) deficiency
-
Dacie J (ed.) 3rd edn, New York: Churchill Livingstone
-
(1985)
The Hemolytic Anemias
, vol.1
, pp. 284-320
-
-
Dacie, J.1
-
10
-
-
77956902867
-
Pyruvate kinase
-
Boyer PD (ed.) 3rd edn, New York: Academic Press
-
(1973)
Enzymes
, pp. 353-382
-
-
Kayne, F.J.1
-
11
-
-
0017364944
-
Interrelationships and functions of the pyruvate kinase isozymes and their variant forms: A review
-
(1977)
Cancer Research
, vol.37
, pp. 341-352
-
-
Ibsen, K.H.1
-
43
-
-
85031509446
-
Estimating the prevalence of pyruvate kinase deficiency in the general white population
-
(in press)
-
(2000)
Blood
-
-
Beutler, E.1
Gelbart, T.2
-
46
-
-
0030992689
-
Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency
-
(1997)
Blood
, vol.89
, pp. 4213-4218
-
-
Kanno, H.1
Fujii, H.2
Wei, D.C.3
-
51
-
-
0003207652
-
Molecular heterogeneity of pyruvate kinase deficiency identified by single strand conformational polymorphism (SSCP) analysis
-
[abstract]
-
(1994)
Blood
, vol.84
, Issue.SUPPL. 1
-
-
Kanno, H.1
Fujii, H.2
Miwa, S.3
-
53
-
-
0025893142
-
Point mutations in theL-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency
-
(1991)
Blood
, vol.77
, pp. 1871-1875
-
-
Neubauer, B.1
Lakomek, M.2
Winkler, H.3
-
56
-
-
0027215046
-
Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg → Gln) associated with hereditary hemolytic anemia
-
(1993)
Blood
, vol.81
, pp. 2439-2441
-
-
Kanno, H.1
Fujii, H.2
Miwa, S.3
-
57
-
-
0028089699
-
Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong
-
(1994)
Blood
, vol.84
, pp. 3505-3509
-
-
Kanno, H.1
Wei, D.C.2
Chan, L.C.3
-
60
-
-
4243347997
-
Monoallelic expression of pyruvate kinase (PK) gene in the two PK variants associated with hereditary hemolytic anemia
-
[abstract]
-
(1995)
Blood
, vol.86
, Issue.SUPPL. 1
-
-
Kanno, H.1
Fujii, H.2
Miwa, S.3
-
61
-
-
0001615807
-
Exonic point mutation 1552 CGT → AGT is not a missense mutation but causes an aberrant splicing of human L-type pyruvate kinase gene
-
[abstract]
-
(1998)
Blood
, vol.90
, Issue.SUPPL. 1
, pp. 2700
-
-
Fujii, H.1
Kanno, H.2
Akaba, K.3
-
67
-
-
0026517708
-
Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia
-
(1992)
Blood
, vol.79
, pp. 1347-1350
-
-
Kanno, H.1
Fujii, H.2
Hirono, A.3
-
70
-
-
0003274234
-
Cumulative information of genotype-phenotype relationship of the homozygous pyruvate kinase deficiency
-
[abstract]
-
(1995)
Blood
, vol.86
-
-
Fujii, H.1
Kanno, H.2
Miwa, S.3
-
73
-
-
0019158080
-
The primary cause of hemolysis in enzymopathies of anaerobic glycolysis. A commentary
-
(1980)
Blood Cells
, vol.6
, pp. 827-829
-
-
Beutler, E.1
-
76
-
-
0023235334
-
Impaired nicotinamide adenine dinucleotide synthesis in pyruvate kinase deficient human erythrocytes. A mechanism for decreased total NADH content and a possible secondary cause of hemolysis
-
(1987)
Blood
, vol.69
, pp. 999-1005
-
-
Zerez, C.R.1
Tanaka, K.R.2
-
78
-
-
0022806837
-
Decrease in subunit aggregation of phosphoribosyl pyrophosphate synthetase: A mechanism for decreased nucleotide concentrations in pyruvate kinase deficient human erythrocytes
-
(1986)
Blood
, vol.68
, pp. 1024-1029
-
-
Zerez, C.R.1
Lachant, N.A.2
Tanaka, K.R.3
-
104
-
-
0017873507
-
Why has the autohemolysis test not gone the way of the cephalin flocculation test?
-
(1978)
Blood
, vol.51
, pp. 109-110
-
-
Beutler, E.1
-
114
-
-
0030798342
-
Erythrocyte pyruvate kinase and glucose phosphate isomerase deficiency: Perturbation of glycolysis by structural defects and functional alterations of defective enzymes and its relation to the clinical hemolytic anemia
-
(1997)
Biophysical Chemistry
, vol.66
, pp. 269-284
-
-
Lakomek, M.1
Winkler, H.2
-
118
-
-
0028349214
-
Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: Implications for gene therapy of human PK deficiency
-
(1994)
Blood
, vol.83
, pp. 2305-2310
-
-
Tani, K.1
Yoshikubo, T.2
Ikebichi, K.3
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