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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Bibliografische gegevens
Gepubliceerd in:Mol Syndromol
Hoofdauteurs: Chen, Bee Chin, Mohd Rawi, Rowani, Meinsma, Rutger, Meijer, Judith, Hennekam, Raoul C.M., van Kuilenburg, André B.P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2014
Onderwerpen:
Short Report
Online toegang: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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