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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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Hauptverfasser: Kuilenburg, André van (VerfasserIn) , Dobritzsch, Doreen (VerfasserIn) , Meijer, Judith (VerfasserIn) , Meinsma, Rutger (VerfasserIn) , Benoist, Jean-François (VerfasserIn) , Assmann, Birgit (VerfasserIn) , Schubert-Bast, Susanne (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Duran, Marinus (VerfasserIn) , de Vries, Maaike C. (VerfasserIn) , Kurlemann, Gerd (VerfasserIn) , Eyskens, François J. M. (VerfasserIn) , Greed, Lawrence (VerfasserIn) , Sass, Jörn Oliver (VerfasserIn) , Schwab, K. Otfried (VerfasserIn) , Sewell, Adrian C. (VerfasserIn) , Walter, John (VerfasserIn) , Hahn, Andreas (VerfasserIn) , Zoetekouw, Lida (VerfasserIn) , Ribes, Antonia (VerfasserIn) , Lind, Suzanne (VerfasserIn) , Hennekam, Raoul C. M. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 1 April 2010
In: Biochimica et biophysica acta. Molecular basis of disease
Year: 2010, Jahrgang: 1802, Heft: 7/8, Pages: 639-648
ISSN:1879-260X
DOI:10.1016/j.bbadis.2010.03.013
Online-Zugang: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
Volltext
Verfasserangaben: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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