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Analysis of severely affected patients with dihydropyrimidine ...

Analysis of severely affected patients with dihydropyrimidine ...

Analysis of severely affected patients with dihydropyrimidine ...

Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can ...

Analysis of severely affected patients with dihydropyrimidine ...

Our study showed for the first time the presence of genomic deletions affecting DPYD in 7% (5/72) of all DPD deficient patients.

Analysis of severely affected patients with dihydropyrimidine ...

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo ...

(PDF) Analysis of severely affected patients with dihydropyrimidine ...

1236G>A of a previously identified haplotype. Retrospective analysis of 203 cancer patients showed that the c.1129–5923C>G mutation was significantly enriched ...

Analysis of severely affected patients with dihydropyrimidine ...

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo ...

Analysis of severely affected patients with dihydropyrimidine ... - OUCI

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo ...

Dihydropyrimidine dehydrogenase deficiency - Genetics - MedlinePlus

People with dihydropyrimidine dehydrogenase deficiency, including those who otherwise exhibit no symptoms, are vulnerable to severe, potentially ...

VCV000495550.11 - ClinVar - NCBI

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo ...

Severe fluoropyrimidine toxicity due to novel and rare DPYD ...

Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). Genetic variations in DPD have ...

A novel large intragenic DPYD deletion causing dihydropyrimidine ...

The study expands the spectrum of DPYD variants associated with DPD deficiency. Furthermore, it raises the concern that patients at risk for ...

A mild phenotype of dihydropyrimidine dehydrogenase deficiency ...

The substitution Lys63Glu is likely to affect the FAD binding pocket within the DPD protein and contributes to a near-complete DPD deficiency in a patient with ...

Dihydropyrimidine dehydrogenase deficiency - MedlinePlus

In people with severe dihydropyrimidine dehydrogenase ... Gozalbo ME.Analysis of severely affected patients with dihydropyrimidine.

DPYD Genotyping Recommendations

62. van Kuilenburg, A.B.P. ∙ Meijer, J. ∙ Mul, A.N.P.M. ... Analysis of severely affected patients with dihydropyrimidine dehydrogenase ...

Homozygosity for an Extremely Rare Variant in DPYD due to ...

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway and can lead to intellectual ...

Dihydropyrimidine dehydrogenase - Sigma-Aldrich

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and ...

DPD deficiency | Treatment for cancer

So far, research has shown that people with DPD deficiency usually develop severe side effects to 5FU or capecitabine within the first 2 treatment cycles. Is ...

Clinical Relevance of Novel Polymorphisms in the ... - MDPI

Among cancer patients treated with fluoropyrimidines, 10–40% develop severe toxicity. Polymorphism of the dihydropyrimidine dehydrogenase (DPYD) gene may ...

ANALYSIS OF SEVERELY AFFECTED PATIENTS WITH ... - AVESİS

ANALYSIS OF SEVERELY AFFECTED PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY REVEALS LARGE INTRAGENIC REARRANGEMENTS OF DPYD AND A DE NOVO ...

Rare DPYD Variants - ASCO Publications

... patients with cancer: A prospective safety analysis. Lancet ... patients with dihydropyrimidine dehydrogenase deficiency. J Inherit ...

Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian ...

The clinical spectrum of patients with a complete DPD deficiency varies considerably, but the most frequently encountered neurological symptoms ...