102 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. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
5. β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
6. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
7. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients
8. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
9. Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation
10. A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy
11. The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters
12. Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity
13. Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible
14. Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease
15. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing
16. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients
17. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications
18. The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma
19. Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency
20. 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
21. ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients
22. Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids
23. Promising effects of the 4HPR–BSO combination in neuroblastoma monolayers and spheroids
24. Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population
25. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
26. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
27. Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin
28. Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
29. 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.
30. Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells
31. 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
32. Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography
33. Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma
34. Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
35. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil
36. The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells
37. β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
38. Rapid gas chromatographic–mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency
39. Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells
40. The cytostatic- and differentiation-inducing effects of cyclopentenyl cytosine on neuroblastoma cell lines
41. Identification of a cDNA encoding an isoform of human CTP synthetase
42. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase
43. Treatment Algorithm for Homozygous or Compound Heterozygous DPYD Variant Allele Carriers With Low-Dose Capecitabine.
44. Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings.
45. Histone deacetylase inhibitor BL1521 induces a G1-phase arrest in neuroblastoma cells through altered expression of cell cycle proteins
46. Cyclopentenyl cytosine primes SK-N-BE(2)c neuroblastoma cells for cytarabine toxicity.
47. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency.
48. Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: High prevalence of the IVS14+1g>a mutation.
49. Cyclopentenyl cytosine increases the phosphorylation and incorporation into DNA of 1-β-D-arabinofuranosyl cytosine in a human T-lymphoblastic cell line.
50. Subunits VIIa,b,c of human cytochrome <em>c</em> oxidase.
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