-
1
-
-
0034984031
-
Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil
-
Johnson MR, Diasio RB. Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv Enzyme Regul 2001; 41:151-157.
-
(2001)
Adv Enzyme Regul
, vol.41
, pp. 151-157
-
-
Johnson, M.R.1
Diasio, R.B.2
-
2
-
-
0023187085
-
Clinical pharmacokinetics of 5-fluorouracil and its metabolism in plasma, urine, and bile
-
Heggie GD, Sommadossi JP, Cross DS, Huster WJ, Diasio RB. Clinical pharmacokinetics of 5-fluorouracil and its metabolism in plasma, urine, and bile. Cancer Res 1987; 47:2203-2206.
-
(1987)
Cancer Res
, vol.47
, pp. 2203-2206
-
-
Heggie, G.D.1
Sommadossi, J.P.2
Cross, D.S.3
Huster, W.J.4
Diasio, R.B.5
-
3
-
-
0034984552
-
Expression and properties of human liver beta-ureidopropionase
-
Sakamoto T, Sakata S, Matsuda K, Horikawa Y, Tamaki N. Expression and properties of human liver beta-ureidopropionase. J Nutr Sci Vitaminol 2001; 47:132-138.
-
(2001)
J Nutr Sci Vitaminol
, vol.47
, pp. 132-138
-
-
Sakamoto, T.1
Sakata, S.2
Matsuda, K.3
Horikawa, Y.4
Tamaki, N.5
-
5
-
-
0031928495
-
Population and family studies of dihydropyrimidinuria: Prevalence, inheritance mode, and risk of fluorouracil toxicity
-
Sumi S, Imaeda M, Kidouchi K, Ohba S, Hamajima N, Kodama K, et al. Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity. Am J Med Genet 1998; 78:336-340.
-
(1998)
Am J Med Genet
, vol.78
, pp. 336-340
-
-
Sumi, S.1
Imaeda, M.2
Kidouchi, K.3
Ohba, S.4
Hamajima, N.5
Kodama, K.6
-
6
-
-
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, et al. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet 1998; 63:717-726.
-
(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
-
7
-
-
9444252988
-
Beta-ureidopropionase deficiency: An inborn error of pyrimidine degradation associated with neurological abnormalities
-
Van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, et al. Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet 2004; 13:2793-2801.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2793-2801
-
-
Van Kuilenburg, A.B.1
Meinsma, R.2
Beke, E.3
Assmann, B.4
Ribes, A.5
Lorente, I.6
-
8
-
-
0035667063
-
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
-
Van Kuilenburg AB, Van Lenthe H, Assmann B, Gohlich-Ratmann G, Hoffmann GF, Brautigam C, et al. Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. J Inherit Metab Dis 2001; 24:725-732.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 725-732
-
-
Van Kuilenburg, A.B.1
Van Lenthe, H.2
Assmann, B.3
Gohlich-Ratmann, G.4
Hoffmann, G.F.5
Brautigam, C.6
-
9
-
-
33646932378
-
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry
-
Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, et al. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem 2006; 52:1127-1137.
-
(2006)
Clin Chem
, vol.52
, pp. 1127-1137
-
-
Hartmann, S.1
Okun, J.G.2
Schmidt, C.3
Langhans, C.D.4
Garbade, S.F.5
Burgard, P.6
-
10
-
-
0036745828
-
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine
-
Ohse M, Matsuo M, Ishida A, Kuhara T. Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. J Mass Spectrom 2002; 37:954-962.
-
(2002)
J Mass Spectrom
, vol.37
, pp. 954-962
-
-
Ohse, M.1
Matsuo, M.2
Ishida, A.3
Kuhara, T.4
-
11
-
-
0034752830
-
Beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine
-
Moolenaar SH, Gohlich-Ratmann G, Engelke U, Spraul M, Humpfer E, Dvortsak P, et al. Beta-ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. Magn Reson Med 2001; 46:1014-1017.
-
(2001)
Magn Reson Med
, vol.46
, pp. 1014-1017
-
-
Moolenaar, S.H.1
Gohlich-Ratmann, G.2
Engelke, U.3
Spraul, M.4
Humpfer, E.5
Dvortsak, P.6
-
12
-
-
0032795865
-
Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil
-
Johnson MR, Hageboutros A, Wang K, High L, Smith J, Diasio RB. Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil. Clin Cancer Res 1999; 5:2006-2011.
-
(1999)
Clin Cancer Res
, vol.5
, pp. 2006-2011
-
-
Johnson, M.R.1
Hageboutros, A.2
Wang, K.3
High, L.4
Smith, J.5
Diasio, R.B.6
-
13
-
-
0036303541
-
Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype
-
Johnson MR, Wang K, Diasio RB. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 2002; 8:768-774.
-
(2002)
Clin Cancer Res
, vol.8
, pp. 768-774
-
-
Johnson, M.R.1
Wang, K.2
Diasio, R.B.3
-
14
-
-
0141995085
-
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity
-
Van Kuilenburg AB, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, et al. Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 2003; 9:4363-4367.
-
(2003)
Clin Cancer Res
, vol.9
, pp. 4363-4367
-
-
Van Kuilenburg, A.B.1
Meinsma, R.2
Zonnenberg, B.A.3
Zoetekouw, L.4
Baas, F.5
Matsuda, K.6
-
17
-
-
0030885948
-
Semi-automated radioassay for determination of dihydropyrimidine dehydrogenase (DPD) activity. Screening cancer patients for DPD deficiency, a condition associated with 5-fluorouracil toxicity
-
Johnson MR, Yan J, Shao L, Albin N, Diasio RB. Semi-automated radioassay for determination of dihydropyrimidine dehydrogenase (DPD) activity. Screening cancer patients for DPD deficiency, a condition associated with 5-fluorouracil toxicity. J Chromatograph B Biomed Sci Appl 1997; 696:183-191.
-
(1997)
J Chromatograph B Biomed Sci Appl
, vol.696
, pp. 183-191
-
-
Johnson, M.R.1
Yan, J.2
Shao, L.3
Albin, N.4
Diasio, R.B.5
-
19
-
-
0038798799
-
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency
-
Kuhara T, Ohdoi C, Ohse M, van Kuilenburg AB, van Gennip AH, Sumi S, et al. Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci 2003; 792:107-115.
-
(2003)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.792
, pp. 107-115
-
-
Kuhara, T.1
Ohdoi, C.2
Ohse, M.3
van Kuilenburg, A.B.4
van Gennip, A.H.5
Sumi, S.6
-
20
-
-
37349090420
-
Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism
-
Thomas H, Ezzeldin H, Guarcello V, Mattison L, Fridley B, Diasio RB. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. Pharmacogenet Genomics 2007; 17:973-987.
-
(2007)
Pharmacogenet Genomics
, vol.17
, pp. 973-987
-
-
Thomas, H.1
Ezzeldin, H.2
Guarcello, V.3
Mattison, L.4
Fridley, B.5
Diasio, R.B.6
-
21
-
-
0032725969
-
cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase
-
Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, et al. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. Biochim Biophys Acta 1999; 1447:251-257.
-
(1999)
Biochim Biophys Acta
, vol.1447
, pp. 251-257
-
-
Vreken, P.1
van Kuilenburg, A.B.2
Hamajima, N.3
Meinsma, R.4
van Lenthe, H.5
Gohlich-Ratmann, G.6
-
22
-
-
0031005437
-
Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects
-
Van Gennip AH, Abeling NG, Vreken P, van Kuilenburg AB. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997; 20:203-213.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 203-213
-
-
Van Gennip, A.H.1
Abeling, N.G.2
Vreken, P.3
van Kuilenburg, A.B.4
-
23
-
-
0034470688
-
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency
-
Van Kuilenburg AB, van Lenthe H, Rattmann GG, Assmann B, Hoffmann GF, Brautigam C, et al. Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Adv Exp Med Biol 2000; 486:243-246.
-
(2000)
Adv Exp Med Biol
, vol.486
, pp. 243-246
-
-
Van Kuilenburg, A.B.1
van Lenthe, H.2
Rattmann, G.G.3
Assmann, B.4
Hoffmann, G.F.5
Brautigam, C.6
-
24
-
-
33645037283
-
Beta-ureidopropionase deficiency presenting with febrile status epilepticus
-
Assmann B, van Kuilenburg A, Distelmaier F, Abeling NG, Rosenbaum T, Schaper J, et al. Beta-ureidopropionase deficiency presenting with febrile status epilepticus. Epilepsia 2006; 47:215-217.
-
(2006)
Epilepsia
, vol.47
, pp. 215-217
-
-
Assmann, B.1
van Kuilenburg, A.2
Distelmaier, F.3
Abeling, N.G.4
Rosenbaum, T.5
Schaper, J.6
-
25
-
-
0030758198
-
Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia
-
Van Gennip AH, van Lenthe H, Abeling NG, Scholten EG, van Kuilenburg AB. Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia. J Inherit Metab Dis 1997; 20:379-382.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 379-382
-
-
Van Gennip, A.H.1
van Lenthe, H.2
Abeling, N.G.3
Scholten, E.G.4
van Kuilenburg, A.B.5
-
26
-
-
0035889487
-
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: A hypothesis
-
Kolker S, Okun JG, Horster F, Assmann B, Ahlemeyer B, Kohlmuller D, et al. 3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis. J Neurosci Res 2001; 66:666-673.
-
(2001)
J Neurosci Res
, vol.66
, pp. 666-673
-
-
Kolker, S.1
Okun, J.G.2
Horster, F.3
Assmann, B.4
Ahlemeyer, B.5
Kohlmuller, D.6
-
27
-
-
0027426408
-
Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: Population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy
-
Lu Z, Zhang R, Diasio RB. Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res 1993; 53:5433-5438.
-
(1993)
Cancer Res
, vol.53
, pp. 5433-5438
-
-
Lu, Z.1
Zhang, R.2
Diasio, R.B.3
-
28
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Krawetz S, Misener S, editors, Totowa, New Jersey: Humana Press;
-
Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, editors. Bioinformatics methods and protocols: methods in molecular biology. Totowa, New Jersey: Humana Press; 2000. pp. 365-386.
-
(2000)
Bioinformatics methods and protocols: Methods in molecular biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
29
-
-
0036629198
-
A high throughput denaturing high performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency
-
Ezzeldin H, Okamoto Y, Johnson MR, Diasio RB. A high throughput denaturing high performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. Anal Biochem 2002; 306:63-73.
-
(2002)
Anal Biochem
, vol.306
, pp. 63-73
-
-
Ezzeldin, H.1
Okamoto, Y.2
Johnson, M.R.3
Diasio, R.B.4
-
30
-
-
0042525899
-
Denaturing high performance liquid chromatography analysis of the DPYD gene in patients with lethal 5-fluorouracil toxicity
-
Ezzeldin H, Johnson MR, Okamoto Y, Diasio RB. Denaturing high performance liquid chromatography analysis of the DPYD gene in patients with lethal 5-fluorouracil toxicity. Clin Cancer Res 2003; 9:3021-3028.
-
(2003)
Clin Cancer Res
, vol.9
, pp. 3021-3028
-
-
Ezzeldin, H.1
Johnson, M.R.2
Okamoto, Y.3
Diasio, R.B.4
-
31
-
-
1842579613
-
Mutation detection using Surveyor nuclease
-
Qui P, Shandilya H, D'Alessio J, O'Connor K, Durocher J, Gerard G. Mutation detection using Surveyor nuclease. Biotechniques 2004; 36: 702-707.
-
(2004)
Biotechniques
, vol.36
, pp. 702-707
-
-
Qui, P.1
Shandilya, H.2
D'Alessio, J.3
O'Connor, K.4
Durocher, J.5
Gerard, G.6
-
33
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002; 12:436-446.
-
(2002)
Genome Res
, vol.12
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
34
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
37
-
-
0029130796
-
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
-
Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995; 12:921-927.
-
(1995)
Mol Biol Evol
, vol.12
, pp. 921-927
-
-
Excoffier, L.1
Slatkin, M.2
|