Found: 14
Select item for more details and to access through your institution.
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.
- Published in:
- Human Genetics, 2010, v. 128, n. 5, p. 529, doi. 10.1007/s00439-010-0879-3
- By:
- Publication type:
- Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
- By:
- Publication type:
- Article
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.
- Published in:
- International Journal of Cancer, 2002, v. 101, n. 3, p. 253, doi. 10.1002/ijc.10599
- By:
- Publication type:
- Article
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2793, doi. 10.1093/hmg/ddh303
- By:
- Publication type:
- Article
Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 6, p. 299, doi. 10.1159/000366074
- By:
- Publication type:
- Article
In vitro inhibition of cytidine triphosphate synthetase activity by cyclopentenyl cytosine in paediatric acute lymphocytic leukaemia.
- Published in:
- British Journal of Haematology, 2000, v. 110, n. 1, p. 161, doi. 10.1046/j.1365-2141.2000.02136.x
- By:
- Publication type:
- Article
Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
- Published in:
- 2014
- By:
- Publication type:
- Erratum
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y
- By:
- Publication type:
- Article
The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162901
- By:
- Publication type:
- Article
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.
- Published in:
- 2005
- By:
- Publication type:
- Erratum
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.
- Published in:
- Biological Chemistry, 2005, v. 386, n. 4, p. 319, doi. 10.1515/BC.2005.038
- By:
- Publication type:
- Article
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.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 947, doi. 10.1002/humu.23538
- By:
- Publication type:
- Article
Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocytes.
- Published in:
- EJNMMI Research, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13550-021-00823-5
- By:
- Publication type:
- Article
Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake.
- Published in:
- EJNMMI Research, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13550-020-00662-w
- By:
- Publication type:
- Article