Clinical and biochemical aspects of dihydropyrimidinase deficiency

Advances in Experimental Medicine and Biology

Volumn 431, Issue , 1998, Pages 125-128

  Van Gennip, Albert H ^a   De Abreu, Ronney A ^b   Vreken, Peter ^a   Van Kuilenburg, André B P ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINASE; PYRIMIDINE DERIVATIVE;

CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; LABORATORY DIAGNOSIS; LIVER; METABOLIC DISORDER; PRIORITY JOURNAL; SCREENING; SYMPTOMATOLOGY; URINALYSIS;

EID: 0031834481     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5381-6_24     Document Type: Conference Paper

References (16)

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2. Van Gennip AH, Abeling NGGM, Vreken P and Van Kuilenburg ABP (1997) Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J. Inher Metab Dis 20: in press.
3. Duran M, Rovers P, De Bree PK, Schreuder CH, Beukenhorst H, Dorland L (1990) Dihydropyrimidinuria. Lancet 336: 817-818.
4. Van Gennip AH, Abeling NGGM, Stroomer AEM, Van Lenthe H, Bakker HD (1994) Clinical and biochemical findings in six patients with pyrimidine degradation defects. J Inher Metab Dis 17: 130-132.
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7. Sumi S, Kidouchi K, Hayashi K, Ohba S and Wada Y (1996) Dihydropyrimidinuria without clinical symptoms. J Inher Metab Dis 19: 701-701.
8. Van Gennip AH, De Abreu RA, Van Lenthe H, Bakkeren J, Rotteveel J, Van Kuilenburg ABP (1997) Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. J Inher Metab Dis 20: in press.
9. Abstract in: Van Gennip et al (1996) J Inher Metab Dis 19: suppl.1, P18.
10. Assmann B, Hoffmann G, Wagner L, Seyberth H, Berger R (1996) Microvillous atrophy and elevated urinary excretion of pyrimidines. J Inher Metab Dis 19: suppl. 1, P20.
11. Van Gennip AH, Van Lenthe H, Abeling NGGM, Scholten EG, Van Kuilenburg ABP (1997) Inhibition of β-ureidopropionase by propionate may contribute to the neurologic complications in patients with propionic acidemia. J Inher Metab Dis 20: in press.
12. Abstract in: Van Gennip et al (1996) J Inher Metab Dis 19: suppl. 1, P86.
13. Van Gennip AH (1993) Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 39: 380-385.
14. Van Gennip AH (1987) Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC. In Zweig G, Sherma J, Krstulovic AM, eds. Handbook of Chromatography. Boca Raton, FL: CRC Press, Vol. I, part A, 221-245.
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16. Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M (1996) A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. Gene 180: 157-163.