Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation-Reference-Cited by-同舟云学术

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Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

Published:2003-06 Issue:4 Volume:26 Page:407-409
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fiumara A.¹,van Kuilenburg A. B. P.²,Caruso U.³,Nucifora C.¹,Marzullo E.¹,Barone R.¹,Meli C.¹,van Gennip A. H.²

Affiliation:

1. ; Center for Inborn Errors of Metabolism, Department of Paediatrics; University of Catania; Catania Italy

2. ; Laboratory of Genetic Metabolic Diseases, Academic Medical Center; University of Amsterdam; The Netherlands

3. Laboratorio Istituto Gaslini; Genoa Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1025123622821/fullpdf

Reference7 articles.

1. Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities;Bakker;J Inherit Metab Dis,1994

2. Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistan origin;Fernandez-Salguero;Pharmacogenetics,1997

3. Heterogeneity of symp-tomatology in two male siblings with thymine uraciluria;Henderson;J Inherit Metab Dis,1995

4. Rapid screening of high-risk patients for disorders of purine and purimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine-soaked filter paper strips;Ito;Clin Chem,2000

5. Beta alanine, a possible neurotransmitter in the visual system?;Sandberg;J Neurochem,1981

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency;Advances in Molecular Pathology;2024-08

2. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?;JIMD Reports;2017

3. Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings;Molecular Syndromology;2014

4. Dual Diagnosis of Dihydropyrimidine Dehydrogenase Deficiency and GM1 Gangliosidosis;Pediatric Neurology;2012-03

5. Saccharomyces kluyverias a model organism to study pyrimidine degradation;FEMS Yeast Research;2008-12

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