Literature DB >> 9686373

Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.

E Christensen1, I Cezanne, S Kjaergaard, H Hørlyk, V Faurholt Pedersen, P Vreken, A B van Kuilenburg, A H Van Gennip.   

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Year:  1998        PMID： 9686373     DOI： 10.1023/a:1005328424310

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


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  7 in total

1.  Dihydropyrimidine dehydrogenase deficiency--a further case.

Authors:  B Wilcken; J Hammond; R Berger; G Wise; C James
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 2.  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

3.  A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; G P Smit; H D Bakker; R A De Abreu; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 4.  Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

Authors:  A H van Gennip; S Busch; L Elzinga; A E Stroomer; A van Cruchten; E G Scholten; N G Abeling
Journal:  Clin Chem       Date:  1993-03       Impact factor: 8.327

5.  Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.

Authors:  N Amir; O el-Peleg; R S Shalev; E Christensen
Journal:  Neurology       Date:  1987-10       Impact factor: 9.910

6.  Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.

Authors:  E Christensen; B B Jacobsen; N Gregersen; H Hjeds; J B Pedersen; N J Brandt; U B Baekmark
Journal:  Clin Chim Acta       Date:  1981-11-11       Impact factor: 3.786

7.  Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.

Authors:  A B Van Kuilenburg; H Van Lenthe; A H Van Gennip
Journal:  Anticancer Res       Date:  1996 Jan-Feb       Impact factor: 2.480
  7 in total
  1 in total

1.  Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.

Authors:  G M Enns; A J Barkovich; A B P van Kuilenburg; M Manning; T Sanger; D R Witt; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  1 in total

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