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Dihydropyrimidinase deficiency: phenotype, genotype and structural consequences in 17 patients

Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyses the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 11 individuals have been reported suffering from a complete DHP deficiency. Here, we report on the clinical, biochemical and...

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Main Authors: Kuilenburg, André van (Author) , Dobritzsch, Doreen (Author) , Meijer, Judith (Author) , Meinsma, Rutger (Author) , Benoist, Jean-François (Author) , Assmann, Birgit (Author) , Schubert-Bast, Susanne (Author) , Hoffmann, Georg F. (Author) , Duran, Marinus (Author) , de Vries, Maaike C. (Author) , Kurlemann, Gerd (Author) , Eyskens, François J. M. (Author) , Greed, Lawrence (Author) , Sass, Jörn Oliver (Author) , Schwab, K. Otfried (Author) , Sewell, Adrian C. (Author) , Walter, John (Author) , Hahn, Andreas (Author) , Zoetekouw, Lida (Author) , Ribes, Antonia (Author) , Lind, Suzanne (Author) , Hennekam, Raoul C. M. (Author)
Format: Article (Journal)
Language:English
Published: 1 April 2010
In: Biochimica et biophysica acta. Molecular basis of disease
Year: 2010, Volume: 1802, Issue: 7/8, Pages: 639-648
ISSN:1879-260X
DOI:10.1016/j.bbadis.2010.03.013
Online Access:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.bbadis.2010.03.013
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0925443910000724
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Author Notes:André B.P. van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean-François Benoist, Birgit Assmann, Susanne Schubert, Georg F. Hoffmann, Marinus Duran, Maaike C. de Vries, Gerd Kurlemann, François J.M. Eyskens, Lawrence Greed, Jörn Oliver Sass, K. Otfried Schwab, Adrian C. Sewell, John Walter, Andreas Hahn, Lida Zoetekouw, Antonia Ribes, Suzanne Lind, Raoul C.M. Hennekam
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Summary:Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyses the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 11 individuals have been reported suffering from a complete DHP deficiency. Here, we report on the clinical, biochemical and molecular findings of 17 newly identified DHP deficient patients as well as the analysis of the mutations in a three-dimensional framework.
Item Description:Gesehen am 29.08.2023
Physical Description:Online Resource
ISSN:1879-260X
DOI:10.1016/j.bbadis.2010.03.013

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