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Your search keyword '"van Kuilenburg, André B.P."' showing total 6 results

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Start Over You searched for: Author "van Kuilenburg, André B.P." Remove constraint Author: "van Kuilenburg, André B.P." Journal biochimica et biophysica acta (bba) - molecular basis of disease Remove constraint Journal: biochimica et biophysica acta (bba) - molecular basis of disease
6 results on '"van Kuilenburg, André B.P."'

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1. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

2. The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters

3. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

5. ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

6. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

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