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Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD

van Kuilenburg, A. B. P. and Meijer, J. and Gökcay, G. and Baykal, T. and Rubio-Gozalbo, M. E. and Mul, A. N. P. M. and de Die-Smulders, C. E. M. and Weber, P. and Mori, A. Capone and Bierau, J. and Fowler, B. and Macke, K. and Sass, J. O. and Meinsma, R. and Hennermann, J. B. and Miny, P. and Zoetekouw, L. and Roelofsen, J. and Vijzelaar, R. and Nicolai, J. and Hennekam, R. C. M.. (2010) Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides, nucleotides & nucleic acids, Vol. 29, H. 4-6. pp. 509-514.

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Official URL: http://edoc.unibas.ch/dok/A6006687

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Abstract

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber)
03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
UniBasel Contributors:Weber, Peter and Fowler, Brian and Miny, Peter
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Dekker
ISSN:1525-7770
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:19 Jul 2013 07:43
Deposited On:19 Jul 2013 07:37

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