Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectr...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Principais autores: Chen, Bee Chin, Mohd Rawi, Rowani, Meinsma, Rutger, Meijer, Judith, Hennekam, Raoul C.M., van Kuilenburg, André B.P.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4281573/
https://ncbi.nlm.nih.gov/pubmed/25565930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000366074
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