42 results on '"van Kuilenburg, André B.P."'
Search Results
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. Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency
23. Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil:A Note of Caution Based on a Large Prospective Clinical Study
24. 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
25. 6 - Purine and Pyrimidine Metabolism
26. Purine and Pyrimidine Metabolism
27. Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
28. Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene
29. Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease
30. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
31. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
32. Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation
33. A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy
34. Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12
35. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer : a prospective safety analysis
36. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis
37. Diagnostic and therapeutic strategies for fluoropyrimidine treatment of patients carrying multiple DPYD variants
38. Treatment Algorithm for Homozygous or Compound Heterozygous DPYD Variant Allele Carriers With Low-Dose Capecitabine
39. Capecitabine-based treatment of a patient with a novelDPYDgenotype and complete dihydropyrimidine dehydrogenase deficiency
40. Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease
41. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients
42. CIAO1and MMS19deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
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