Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
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DOI: 10.3390/metabo12030241
Abstract: Three genetically determined enzyme defects of purine de novo synthesis (PDNS) have been identified so far in humans: adenylosuccinate lyase (ADSL) deficiency, 5-amino-4-imidazole carboxamide-ribosiduria (AICA-ribosiduria), and deficiency in bifunctional enzyme phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase… read more here.
Keywords: hela cells; purine novo; novo synthesis; cells deficient ... See more keywords