Literature DB >> 7837779

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.

H D Bakker1, M E Rubio Gozalbo, A H van Gennip.   

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Year:  1994        PMID： 7837779     DOI： 10.1007/bf00711611

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


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  3 in total

1.  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

2.  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

3.  Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.

Authors:  J P Braakhekke; W O Renier; F J Gabreëls; R A De Abreu; J A Bakkeren; R C Sengers
Journal:  J Neurol Sci       Date:  1987-03       Impact factor: 3.181
  3 in total
  5 in total

1.  Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Authors:  N A Al-Sanna'a; A B P Van Kuilenburg; T M Atrak; M A Abdul-Jabbar; A H Van Gennip
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Authors:  M Fleger; J Willomitzer; R Meinsma; M Alders; J Meijer; R C M Hennekam; M Huemer; A B P van Kuilenburg
Journal:  JIMD Rep       Date:  2017-03-09

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

4.  Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

Authors:  A Fiumara; A B P van Kuilenburg; U Caruso; C Nucifora; E Marzullo; R Barone; C Meli; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Neurotrophic keratitis in a patient with dihydroxypyrimidine dehydrogenase deficiency.

Authors:  Bharat Kapoor; Ezzedin A Luhishi; Andrew K K Chung; Jakobus C Pauw
Journal:  Indian J Ophthalmol       Date:  2008 Jul-Aug       Impact factor: 1.848
  5 in total

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