Literature DB >> 2109146

A new case of dihydropyrimidine dehydrogenase deficiency.

M Brockstedt1, C Jakobs, L M Smit, A H van Gennip, R Berger.   

Abstract

We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.

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Year:  1990        PMID： 2109146     DOI： 10.1007/bf01799339

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  11 in total

1.  Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.

Authors:  R B Diasio; T L Beavers; J T Carpenter
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

2.  Reduction of thymine by leukocytes.

Authors:  H W Goedde; R Hoffbauer; K G Blume
Journal:  Biochem Genet       Date:  1968-06       Impact factor: 1.890

3.  Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

Authors:  S K Wadman; R Berger; M Duran; P K de Bree; S A Stoker-de Vries; F A Beemer; J J Weits-Binnerts; T J Penders; J K van der Woude
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  The activities of thymidine metabolising enzymes during the cell cycle of a human lymphocyte cell line LAZ-007 synchronised by centrifugal elutriation.

Authors:  A A Piper; M H Tattersall; R M Fox
Journal:  Biochim Biophys Acta       Date:  1980-12-15

5.  Linear relationship between the R- and S-enantiomers of a beta-aminoisobutyric acid in human urine.

Authors:  A H van Gennip; J P Kamerling; P K de Bree; S K Wadman
Journal:  Clin Chim Acta       Date:  1981-11-11       Impact factor: 3.786

6.  Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain.

Authors:  G Berglund; J Greter; S Lindstedt; G Steen; J Waldenström; U Wass
Journal:  Clin Chem       Date:  1979-07       Impact factor: 8.327

7.  Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.

Authors:  J A Bakkeren; R A De Abreu; R C Sengers; F J Gabreëls; J M Maas; W O Renier
Journal:  Clin Chim Acta       Date:  1984-07-31       Impact factor: 3.786

8.  Purification and properties of dihydrothymine dehydrogenase from rat liver.

Authors:  T Shiotani; G Weber
Journal:  J Biol Chem       Date:  1981-01-10       Impact factor: 5.157

9.  beta-Aminoisobutyric acid as a marker of thymine catabolism in malignancy.

Authors:  A H van Gennip; E J van Bree-Blom; N G Abeling; A J van Erven; P A Voûte
Journal:  Clin Chim Acta       Date:  1987-06-15       Impact factor: 3.786

10.  Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

Authors:  R Berger; S A Stoker-de Vries; S K Wadman; M Duran; F A Beemer; P K de Bree; J J Weits-Binnerts; T J Penders; J K van der Woude
Journal:  Clin Chim Acta       Date:  1984-08-31       Impact factor: 3.786
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  5 in total

1.  The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.

Authors:  C Jakobs; F Stellaard; L M Smit; J M van Vugt; M Duran; R Berger; P Rovers
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

2.  Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

Authors:  M J Henderson; K Ward; H A Simmonds; J A Duley; P M Davies
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 3.  Uridine nucleotide receptors and their ligands: structural, physiological, and pathophysiological aspects, with special emphasis on the nervous system.

Authors:  E Heilbronn; B H Knoblauch; C E Müller
Journal:  Neurochem Res       Date:  1997-08       Impact factor: 3.996

Review 4.  Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

Authors:  A H van Gennip; N G Abeling; P Vreken; A B van Kuilenburg
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

5.  Clinical and biochemical findings in six patients with pyrimidine degradation defects.

Authors:  A H van Gennip; N G Abeling; A E Stroomer; H van Lenthe; H D Bakker
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  5 in total

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