Literature DB >> 12971429

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

A Fiumara1, A B P van Kuilenburg, U Caruso, C Nucifora, E Marzullo, R Barone, C Meli, A H van Gennip.   

Abstract

Dihydropyrimidine dehydrogenase (DPD) deficiency has been linked to 5-fluorouracil toxicity, but patients may present a wide clinical spectrum. We describe a 1-year-old Tunisian girl with a dramatic onset of neurological symptoms suggesting the possible triggering role of environmental factors.

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Year:  2003        PMID： 12971429     DOI： 10.1023/a:1025123622821

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


  7 in total

1.  Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.

Authors:  T Ito; A B van Kuilenburg; A H Bootsma; A J Haasnoot; A van Cruchten; Y Wada; A H van Gennip
Journal:  Clin Chem       Date:  2000-04       Impact factor: 8.327

2.  Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.

Authors:  A B van Kuilenburg; J Haasjes; D J Richel; L Zoetekouw; H Van Lenthe; R A De Abreu; J G Maring; P Vreken; A H van Gennip
Journal:  Clin Cancer Res       Date:  2000-12       Impact factor: 12.531

3.  Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.

Authors:  P M Fernandez-Salguero; A Sapone; X Wei; J R Holt; S Jones; J R Idle; F J Gonzalez
Journal:  Pharmacogenetics       Date:  1997-04

4.  Heterogeneity of symptomatology in two male siblings with thymine uraciluria.

Authors:  M J Henderson; S Jones; P Walker; J Duley; H A Simmonds
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.

Authors:  H D Bakker; M E Rubio Gozalbo; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 6.  Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Authors:  A B Van Kuilenburg; P Vreken; N G Abeling; H D Bakker; R Meinsma; H Van Lenthe; R A De Abreu; J A Smeitink; H Kayserili; M Y Apak; E Christensen; I Holopainen; K Pulkki; D Riva; G Botteon; E Holme; M Tulinius; W J Kleijer; F A Beemer; M Duran; K E Niezen-Koning; G P Smit; C Jakobs; L M Smit; A H Van Gennip
Journal:  Hum Genet       Date:  1999-01       Impact factor: 4.132

7.  beta-Alanine, a possible neurotransmitter in the visual system?

Authors:  M Sandberg; I Jacobson
Journal:  J Neurochem       Date:  1981-11       Impact factor: 5.372
  7 in total
  5 in total

1.  Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Authors:  Bee Chin Chen; Rowani Mohd Rawi; Rutger Meinsma; Judith Meijer; Raoul C M Hennekam; André B P van Kuilenburg
Journal:  Mol Syndromol       Date:  2014-09-25

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.  Pseudomembranous colitis associated with chemotherapy with 5-fluorouracil.

Authors:  Rafael Morales Chamorro; Raquel Serrano Blanch; María José Méndez Vidal; María Auxiliadora Gómez España; María Jesús Rubio Pérez; Juan Rafael de la Haba Rodríguez; Enrique Aranda Aguilar
Journal:  Clin Transl Oncol       Date:  2005-07       Impact factor: 3.405

4.  New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

Authors:  André B P Van Kuilenburg; Alida E M Stroomer; Henk Van Lenthe; Nico G G M Abeling; Albert H Van Gennip
Journal:  Biochem J       Date:  2004-04-01       Impact factor: 3.857

5.  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
  5 in total

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