A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case re...
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 from asymptomatic to severely affected patients presenting with intelle...
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Full title
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_433b40107103409f83ac2d77f6e8a618
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_433b40107103409f83ac2d77f6e8a618
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-01846-2
