A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

• المؤلفون الرئيسيون: Anna Malekkou (مؤلف), Marios Tomazou (مؤلف), Gavriella Mavrikiou (مؤلف), Maria Dionysiou (مؤلف), Theodoros Georgiou (مؤلف), Ioannis Papaevripidou (مؤلف), Angelos Alexandrou (مؤلف), Carolina Sismani (مؤلف), Anthi Drousiotou (مؤلف), Olga Grafakou (مؤلف), Petros P. Petrou (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2024-03-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Background Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging f...