Detalles de la búsqueda
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38411040
2.
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.
Hum Mutat
; 39(7): 947-953, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29691939
3.
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.
Int J Cancer
; 142(2): 424-430, 2018 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28929491
4.
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Biochim Biophys Acta
; 1862(4): 754-762, 2016 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26804652
5.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochim Biophys Acta Mol Basis Dis
; 1863(3): 721-730, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28024938
6.
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Mol Genet Metab
; 122(4): 216-222, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29054612
7.
Clinical, biochemical and molecular analysis of 13 Japanese patients with ß-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
J Inherit Metab Dis
; 37(5): 801-12, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24526388
8.
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
Biochim Biophys Acta
; 1822(7): 1096-108, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22525402
9.
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
Biochim Biophys Acta
; 1802(7-8): 639-48, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20362666
10.
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).
Hum Genet
; 125(5-6): 581-90, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19296131
11.
Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients.
Ther Adv Psychopharmacol
; 9: 2045125319872341, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31523419
12.
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.
Acta Biochim Pol
; 55(4): 787-90, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-19081848
13.
Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin.
Eur J Cancer
; 43(2): 459-65, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17097873
14.
Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography.
J Chromatogr B Analyt Technol Biomed Life Sci
; 820(2): 271-275, 2005 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-15893964
15.
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.
Clin Cancer Res
; 9(12): 4363-7, 2003 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-14555507
16.
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.
JIMD Rep
; 24: 83-9, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25967230
17.
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
JIMD Rep
; 15: 39-45, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-24788355
18.
High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.
Pharmacogenetics
; 12(7): 555-8, 2002 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-12360106
19.
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Orphanet J Rare Dis
; 8: 99, 2013 Jul 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-23837464
20.
Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy.
Nucleosides Nucleotides Nucleic Acids
; 27(6): 726-32, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18600532