221 results on '"van Kuilenburg, André B.P."'
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2. Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants
3. Anti-retroviral treatment with zidovudine alters pyrimidine metabolism, reduces translation, and extends healthy longevity via ATF-4
4. Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels
5. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
6. β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
7. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
8. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients
9. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
10. Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation
11. A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy
12. List of Contributors
13. Purine and Pyrimidine Metabolism
14. The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters
15. Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity
16. Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible
17. Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease
18. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing
19. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients
20. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications
21. The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma
22. Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry
23. Recovery of SK-N-Be(2)C Cells from Treatmemt with Cyclopentenyl Cytosine
24. Isoforms of Human CTP Synthetase
25. HPLC/ESI Tandem-MS of Liquid Urine or Urine Soaked Filter-Paper Strips for the Detection of Thymine-Uraciluria and Dihydropyrimidinuria
26. Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency
27. Introduction of a Fluorine Atom at C3 of 3-Deazauridine Shifts Its Antimetabolic Activity from Inhibition of CTP Synthetase to Inhibition of Orotidylate Decarboxylase, an Early Event in the de Novo Pyrimidine Nucleotide Biosynthesis Pathway
28. ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients
29. Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids
30. Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil:A Note of Caution Based on a Large Prospective Clinical Study
31. Promising effects of the 4HPR–BSO combination in neuroblastoma monolayers and spheroids
32. Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu
33. Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population
34. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
35. 6 - Purine and Pyrimidine Metabolism
36. Purine and Pyrimidine Metabolism
37. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
38. Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin
39. Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
40. Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
41. Purine and Pyrimidine Metabolism
42. Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells
43. Evaluation of 5-Fluorouracil Pharmacokinetics in Cancer Patients with a c.1905+1G>A Mutation in DPYD by Means of a Bayesian Limited Sampling Strategy
44. Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene
45. Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease
46. Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography
47. Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma
48. Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
49. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil
50. The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells
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