-
1
-
-
0029685786
-
Uracil metabolism-UMP synthesis from orotic acid or uridine and conversion of uracil to beta-alanine: Enzymes and cDNAs
-
Traut T.W., Jones M.E. Uracil metabolism-UMP synthesis from orotic acid or uridine and conversion of uracil to beta-alanine: enzymes and cDNAs. Prog. Nucl. Acid Res. Mol. Biol. 53:1996;1-78.
-
(1996)
Prog. Nucl. Acid Res. Mol. Biol.
, vol.53
, pp. 1-78
-
-
Traut, T.W.1
Jones, M.E.2
-
2
-
-
0020067608
-
Human serum carnosinase; Characterization, distinction from cellular carnosinase and activation by cadmium
-
Lenney J.F., George R.P., Weiss A.M., Kucera C.M., Chan P.W.H., Rinzler G.S. Human serum carnosinase; characterization, distinction from cellular carnosinase and activation by cadmium. Clin. Chim. Acta. 123:1982;221-231.
-
(1982)
Clin. Chim. Acta
, vol.123
, pp. 221-231
-
-
Lenney, J.F.1
George, R.P.2
Weiss, A.M.3
Kucera, C.M.4
Chan, P.W.H.5
Rinzler, G.S.6
-
3
-
-
0023657963
-
Purification and properties of β-ureidopropionase from the rat liver
-
Tamaki N., Mizutani N., Kikugawa M., Fujimoto S., Mizota C. Purification and properties of β-ureidopropionase from the rat liver. Eur. J. Biochem. 169:1987;21-26.
-
(1987)
Eur. J. Biochem.
, vol.169
, pp. 21-26
-
-
Tamaki, N.1
Mizutani, N.2
Kikugawa, M.3
Fujimoto, S.4
Mizota, C.5
-
4
-
-
0024285884
-
Bisfunction of propionic acid on purified rat liver β-ureidopropionase
-
Kikugawa M., Fujimoto S., Mizota C., Tamaki N. Bisfunction of propionic acid on purified rat liver β-ureidopropionase. FEBS Lett. 229:1988;345-348.
-
(1988)
FEBS Lett.
, vol.229
, pp. 345-348
-
-
Kikugawa, M.1
Fujimoto, S.2
Mizota, C.3
Tamaki, N.4
-
6
-
-
0027503287
-
Cloning, sequencing, and expression of a cDNA encoding β-alanine synthase from rat liver
-
Kvalnes-Krick K.L., Traut T.W. Cloning, sequencing, and expression of a cDNA encoding β-alanine synthase from rat liver. J. Biol. Chem. 268:1993;5686-5693.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 5686-5693
-
-
Kvalnes-Krick, K.L.1
Traut, T.W.2
-
7
-
-
0029670693
-
Dietary β-alanine results in taurine depletion and cerebellar damage in adult cats
-
Lu P., Xu W., Sturman J.A. Dietary β-alanine results in taurine depletion and cerebellar damage in adult cats. J. Neurosci. Res. 43:1996;112-119.
-
(1996)
J. Neurosci. Res.
, vol.43
, pp. 112-119
-
-
Lu, P.1
Xu, W.2
Sturman, J.A.3
-
8
-
-
0027535740
-
Reduction of liver taurine in rats by β-alanine treatment increases carbon tetrachloride toxicity
-
Waterfield C.J., Turton J.A., Scales M.D., Timbrell J.A. Reduction of liver taurine in rats by β-alanine treatment increases carbon tetrachloride toxicity. Toxicology. 77:1993;7-20.
-
(1993)
Toxicology
, vol.77
, pp. 7-20
-
-
Waterfield, C.J.1
Turton, J.A.2
Scales, M.D.3
Timbrell, J.A.4
-
9
-
-
35348837709
-
Hyper-β-alaninemia associated with β-aminoaciduria and γ-aminobutyricaciduria, somnolence and seizures
-
Scriver C.R., Pueschel S., Davies E. Hyper-β-alaninemia associated with β-aminoaciduria and γ-aminobutyricaciduria, somnolence and seizures. New Engl. J. Med. 274:1966;636-639.
-
(1966)
New Engl. J. Med.
, vol.274
, pp. 636-639
-
-
Scriver, C.R.1
Pueschel, S.2
Davies, E.3
-
10
-
-
0032974922
-
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
-
Van Kuilenburg A.B.P., Vreken P., Abeling N.G.G.M., Bakker H.D., Meinsma R., Van Lenthe H., De Abreu R.A., Smeitink J.A., Kayserili H., Apak M.Y., Christensen E., Holopainen I., Pulkki K., Riva D., Botteon G., Holme E., Tulinius M., Kleijer W.J., Beemer F.A., Duran M., Niezen-Koning K.E., Smit G.P.A., Jakobs C., Smit G.P.A., Moog U., Spaapen L.J.M., Van Gennip A.H. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum. Genet. 104:1999;1-9.
-
(1999)
Hum. Genet.
, vol.104
, pp. 1-9
-
-
Van Kuilenburg, A.B.P.1
Vreken, P.2
Abeling, N.G.G.M.3
Bakker, H.D.4
Meinsma, R.5
Van Lenthe, H.6
De Abreu, R.A.7
Smeitink, J.A.8
Kayserili, H.9
Apak, M.Y.10
Christensen, E.11
Holopainen, I.12
Pulkki, K.13
Riva, D.14
Botteon, G.15
Holme, E.16
Tulinius, M.17
Kleijer, W.J.18
Beemer, F.A.19
Duran, M.20
Niezen-Koning, K.E.21
Smit, G.P.A.22
Jakobs, C.23
Smit, G.P.A.24
Moog, U.25
Spaapen, L.J.M.26
Van Gennip, A.H.27
more..
-
11
-
-
0032231926
-
Dihydropyrimidinase deficiency: Structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene
-
Hamajima N., Kouwaki M., Vreken P., Matsuda K., Sumi S., Imaeda M., Ohba S., Kidouchi K., Nonaka M., Sasaki M., Tamaki N., Endo Y., De Abreu R.A., van Kuilenburg A.B.P., van Gennip A.H., Togari H., Wada Y. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am. J. Hum. Genet. 63:1998;717-726.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 717-726
-
-
Hamajima, N.1
Kouwaki, M.2
Vreken, P.3
Matsuda, K.4
Sumi, S.5
Imaeda, M.6
Ohba, S.7
Kidouchi, K.8
Nonaka, M.9
Sasaki, M.10
Tamaki, N.11
Endo, Y.12
De Abreu, R.A.13
Van Kuilenburg, A.B.P.14
Van Gennip, A.H.15
Togari, H.16
Wada, Y.17
-
12
-
-
0031005437
-
Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects
-
Van Gennip A.H., Abeling N.G.G.M., Vreken P., Van Kuilenburg A.B.P. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J. Inherit. Metab. Dis. 20:1997;203-213.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 203-213
-
-
Van Gennip, A.H.1
Abeling, N.G.G.M.2
Vreken, P.3
Van Kuilenburg, A.B.P.4
-
13
-
-
0031462149
-
Dihydropyrimidine dehydrogenase (DPD) deficiency: Identification and expression of missense mutations C29R, R886H and R235W
-
Vreken P., Van Kuilenburg A.B.P., Meinsma R., Van Gennip A.H. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Hum. Genet. 101:1997;333-338.
-
(1997)
Hum. Genet.
, vol.101
, pp. 333-338
-
-
Vreken, P.1
Van Kuilenburg, A.B.P.2
Meinsma, R.3
Van Gennip, A.H.4
-
14
-
-
0032143631
-
Characterization of the human dihydropyrimidine dehydrogenase gene
-
Wei X., Elizondo G., Sapone A., McLeod H.L., Raunio H., Fernandez-Salguero P., Gonzalez F.J. Characterization of the human dihydropyrimidine dehydrogenase gene. Genomics. 51:1998;391-400.
-
(1998)
Genomics
, vol.51
, pp. 391-400
-
-
Wei, X.1
Elizondo, G.2
Sapone, A.3
McLeod, H.L.4
Raunio, H.5
Fernandez-Salguero, P.6
Gonzalez, F.J.7
-
15
-
-
0031948047
-
Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli
-
Vreken P., Van Kuilenburg A.B.P., Meinsma R., Beemer F.A., Duran M., van Gennip A.H. Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli. J. Inherit. Metab. Dis. 21:1998;276-279.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 276-279
-
-
Vreken, P.1
Van Kuilenburg, A.B.P.2
Meinsma, R.3
Beemer, F.A.4
Duran, M.5
Van Gennip, A.H.6
-
16
-
-
0030753062
-
Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
-
Vreken P., Van Kuilenburg A.B.P., Meinsma R., De Abreu R.A., Van Gennip A.H. Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression. Hum. Genet. 100:1997;263-265.
-
(1997)
Hum. Genet.
, vol.100
, pp. 263-265
-
-
Vreken, P.1
Van Kuilenburg, A.B.P.2
Meinsma, R.3
De Abreu, R.A.4
Van Gennip, A.H.5
-
17
-
-
0032422075
-
Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity
-
Kouwaki M., Hamajima N., Sumi S., Nonaka M., Sasaki M., Dobashi K., Togari H., Wada Y. Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity. Clin. Cancer Res. 4:1998;2999-3004.
-
(1998)
Clin. Cancer Res.
, vol.4
, pp. 2999-3004
-
-
Kouwaki, M.1
Hamajima, N.2
Sumi, S.3
Nonaka, M.4
Sasaki, M.5
Dobashi, K.6
Togari, H.7
Wada, Y.8
-
18
-
-
0031418165
-
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity
-
Van Kuilenburg A.B.P., Vreken P., Beex L.V.A.M., Meinsma R., van Lenthe H., DeAbreu R.A., Van Gennip A.H. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. Eur. J. Cancer. 33:1997;2258-2264.
-
(1997)
Eur. J. Cancer
, vol.33
, pp. 2258-2264
-
-
Van Kuilenburg, A.B.P.1
Vreken, P.2
Beex, L.V.A.M.3
Meinsma, R.4
Van Lenthe, H.5
Deabreu, R.A.6
Van Gennip, A.H.7
-
19
-
-
0030758198
-
Inhibition of β-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidemia
-
van Gennip A.H., van Lenthe H., Abeling N.G.G.M., Scholten E.G., van Kuilenburg A.B.P. Inhibition of β-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidemia. J. Inherit. Metab. Dis. 20:1997;379-382.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 379-382
-
-
Van Gennip, A.H.1
Van Lenthe, H.2
Abeling, N.G.G.M.3
Scholten, E.G.4
Van Kuilenburg, A.B.P.5
-
20
-
-
0002827038
-
1H-NMR spectroscopy
-
1H-NMR spectroscopy. J. Inherit. Metab. Dis. 21:(Suppl. 2):1998;1.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, Issue.SUPPL. 2
, pp. 1
-
-
Assmann, B.1
Göhlich-Ratmann, G.2
Bräutigam, C.3
Wagner, L.4
Moolenaar, S.5
Engelke, U.6
Wevers, R.7
Voit, T.8
Hoffmann, G.F.9
-
21
-
-
0028295681
-
2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans
-
Wilson R., Ainscough R., Anderson K., Baynes C., Berks M., Bonfield J., Connell M., Copsey T., Cooper J., et al. 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans. Nature. 368:1994;32-38.
-
(1994)
Nature
, vol.368
, pp. 32-38
-
-
Wilson, R.1
Ainscough, R.2
Anderson, K.3
Baynes, C.4
Berks, M.5
Bonfield, J.6
Connell, M.7
Copsey, T.8
Cooper, J.9
-
22
-
-
0028533605
-
Thermostable N-carbamoyl-D-amino acid amidohydrolase: Screening, purification and characterization
-
Ogawa J., Chung M.C., Hida S., Yamada H., Shimizu S. Thermostable N-carbamoyl-D-amino acid amidohydrolase: screening, purification and characterization. J. Biotech. 38:1994;11-19.
-
(1994)
J. Biotech.
, vol.38
, pp. 11-19
-
-
Ogawa, J.1
Chung, M.C.2
Hida, S.3
Yamada, H.4
Shimizu, S.5
-
23
-
-
0028168717
-
Beta-ureidopropionase with N-carbamoyl-alpha-L-amino acid amidohydrolase activity from an aerobic bacterium, Pseudomonas putida IFO 12996
-
Ogawa J., Shimizu S. Beta-ureidopropionase with N-carbamoyl-alpha-L-amino acid amidohydrolase activity from an aerobic bacterium, Pseudomonas putida IFO 12996. Eur. J. Biochem. 223:1994;625-630.
-
(1994)
Eur. J. Biochem.
, vol.223
, pp. 625-630
-
-
Ogawa, J.1
Shimizu, S.2
-
24
-
-
0028871538
-
An expression-independent catalog of genes from human chromosome 22
-
Trofatter J.A., Long K.R., Murrell J.R., Stotler C.J., Gusella J.F., Buckler A.J. An expression-independent catalog of genes from human chromosome 22. Genome Res. 5:1995;214-224.
-
(1995)
Genome Res.
, vol.5
, pp. 214-224
-
-
Trofatter, J.A.1
Long, K.R.2
Murrell, J.R.3
Stotler, C.J.4
Gusella, J.F.5
Buckler, A.J.6
-
26
-
-
0026667606
-
High resolution mapping of mammalian genes by in situ hydridization to free chromatin
-
Heng H.H.Q., Squire J., Tsui L.-C. High resolution mapping of mammalian genes by in situ hydridization to free chromatin. Proc. Natl. Acad. Sci. USA. 89:1992;9509-9513.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 9509-9513
-
-
Heng, H.H.Q.1
Squire, J.2
Tsui, L.-C.3
-
27
-
-
0027225483
-
Modes of DAPI banding and simultaneous in situ hybrization
-
Heng H.H.Q., Tsui L.-C. Modes of DAPI banding and simultaneous in situ hybrization. Chromosoma. 102:1993;325-332.
-
(1993)
Chromosoma
, vol.102
, pp. 325-332
-
-
Heng, H.H.Q.1
Tsui, L.-C.2
|