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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2013
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| Assuntos: | |
| Acesso em linha: | 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 |
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