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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Veröffentlicht in:	JIMD Reports, Volume 45 Volume 45, 2019, Vol.45, p.65-69
Hauptverfasser:	van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Dihydropyrimidine dehydrogenase Pyrimidines Uniparental isodisomy
Online-Zugang:	Volltext
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