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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Detalles Bibliográficos
Autores principales: Al Khallaf, Hamoud H., He, Miao, Wittenauer, Angela, Woolley, Elizabeth E., Cunto, Mariagrazia, Pervaiz, Muhammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897149/
https://www.ncbi.nlm.nih.gov/pubmed/24497719
http://dx.doi.org/10.4103/0971-6866.124382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897149/
https://www.ncbi.nlm.nih.gov/pubmed/24497719
http://dx.doi.org/10.4103/0971-6866.124382

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