Literature DB >> 2029924

The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.

C Jakobs, F Stellaard, L M Smit, J M van Vugt, M Duran, R Berger, P Rovers.   

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Year:  1991        PMID： 2029924     DOI： 10.1007/bf01955535

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  A new case of dihydropyrimidine dehydrogenase deficiency.

Authors:  M Brockstedt; C Jakobs; L M Smit; A H van Gennip; R Berger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future.

Authors:  C Jakobs; H J Ten Brink; F Stellaard
Journal:  Prenat Diagn       Date:  1990-04       Impact factor: 3.050

3.  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

4.  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

5.  Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.

Authors:  C Jakobs; L Sweetman; W L Nyhan; L Gruenke; J C Craig; S K Wadman
Journal:  Clin Chim Acta       Date:  1984-11-15       Impact factor: 3.786
  5 in total
  3 in total

Review 1.  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

2.  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

3.  Group tests for selective screening of inborn errors of metabolism.

Authors:  M Duran; L Dorland; S K Wadman; R Berger
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
  3 in total

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