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...

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Bibliographic Details
Main Authors: Al Khallaf, Hamoud H., He, Miao, Wittenauer, Angela, Woolley, Elizabeth E., Cunto, Mariagrazia, Pervaiz, Muhammad Ali
Format: Online
Language:English
Published: Medknow Publications & Media Pvt Ltd 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897149/