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Browsing by Author Gennip, A.H. van

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Showing results 1 to 16 of 16
Full TextIssue DateTitleAuthor(s)
2006Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.Assmann, B.; Gohlich, G.; Baethmann, M.; Wevers, R.A.; Gennip, A.H. van, et al
2006Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.Kuilenburg, A.B.P. van; Meinsma, R.; Assman, B.; Hoffman, G.F.; Voit, T., et al
2004beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.Kuilenburg, A.B.P. van; Meinsma, R.; Beke, E.; Assmann, B.; Ribes, A., et al
1997Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?Assmann, B.E.; Hoffmann, G.F.; Wagner, L.; Brautigam, C.; Seyberth, H.W., et al
1997Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuriaGennip, A.H. van; Abreu, R.A. de; Lenthe, G.H. van; Bakkeren, J.A.J.; Rotteveel, J.J., et al
1997Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicityKuilenburg, A.B.P. van; Vreken, P.; Beex, L.V.A.M.; Meinsma, R.; Lenthe, G.H. van, et al
19971hnmr spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolismWevers, R.A.; Engelke, U.F.H.; Rotteveel, J.J.; Heerschap, A.; Jong, J.G.N. de, et al
1997Dihydropyrimidinase deficiency, a progressive neurological disorder?Putman, C.W.M.M.; Rotteveel, J.J.; Wevers, R.A.; Gennip, A.H. van; Bakkeren, J.A.J.M., et al
1997Identification of a four-base deletion (delTCAT296-299) in dihydropyrimidine dehydrogenase gene with variable clinical expressionVreken, P.; Kuilenburg, A.B.P. van; Meinsma, R.; Abreu, R.A. de; Gennip, A.H. van
19971H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimide metabolism.Wevers, R.A.; Engelke, U.F.H.; Rotteveel, J.J.; Heerschap, A.; Jong, J.W. de, et al
1996Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypesLenders, J.W.M.; Eisenhofer, G.; Abeling, N.G.G.M.; Berger, W.; Murphy, D.L., et al
1996A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.Vreken, P.; Kuilenburg, A.B.P. van; Meinsma, R.; Smit, G.P.A.; Bakker, H., et al
1995Diagnosis of a new case of trimethylaminuria using direct proton NMR spectrocopy of urineAbeling, A.; Gennip, A.H. van; Bakker, H.; Heerschap, A.; Engelke, U.F.H., et al
1995Diagnosis of a new case of trimethylaminuria using direct proton NMR analysis of urineAbeling, N.G.G.M.; Gennip, A.H. van; Bakker, H.; Heerschap, A.; Engelke, U.F.H., et al
1995Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urineAbeling, N.G.G.M.; Gennip, A.H. van; Bakker, H.; Heerschap, A.; Engelke, U.F.H., et al
1995Deficiƫntie van de adenine-nucleotide-translocator in spierweefsel: een mitochondriale ziekte, behandeld met vitamine EBakker, H.D.; Bogert, C. van den; Scholte, H.R.; Jeneson, J.A.L.; Ruitenbeek, W., et al
Showing results 1 to 16 of 16

 

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