114 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. The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters
13. Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity
14. Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible
15. Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease
16. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing
17. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients
18. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications
19. The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma
20. Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency
21. 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
22. ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients
23. Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids
24. Promising effects of the 4HPR–BSO combination in neuroblastoma monolayers and spheroids
25. Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population
26. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
27. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
28. Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin
29. Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
30. 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.
31. Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells
32. 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
33. Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography
34. Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma
35. Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
36. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil
37. The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells
38. β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
39. Rapid gas chromatographic–mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency
40. Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells
41. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
42. β-Ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients
43. The cytostatic- and differentiation-inducing effects of cyclopentenyl cytosine on neuroblastoma cell lines
44. Identification of a cDNA encoding an isoform of human CTP synthetase
45. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase
46. A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding
47. Treatment Algorithm for Homozygous or Compound Heterozygous DPYD Variant Allele Carriers With Low-Dose Capecitabine.
48. Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings.
49. Histone deacetylase inhibitor BL1521 induces a G1-phase arrest in neuroblastoma cells through altered expression of cell cycle proteins
50. Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy
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