Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway and can lead to intellectual disability, motor retardation, and seizures. Genetic variations in DPYD have also emerged as predictive risk factors for severe toxicity in cance...

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Publicado no:JIMD Rep
Main Authors: van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336675/
https://ncbi.nlm.nih.gov/pubmed/30349988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_138
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