Načítá se...

An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder that shows large phenotypical variability, ranging from no symptoms to intellectual disability, motor retardation, and convulsions. In addition, homozygous and heterozygous mutation carriers can develop severe 5-fluo...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Al Khallaf, Hamoud H., He, Miao, Wittenauer, Angela, Woolley, Elizabeth E., Cunto, Mariagrazia, Pervaiz, Muhammad Ali
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897149/
https://ncbi.nlm.nih.gov/pubmed/24497719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.124382
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!