Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis

Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis

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 carboxyla...

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Bibliographic Details
Main Authors: Lucie Mádrová, Olga Součková, Radana Brumarová, Dana Dobešová, Jan Václavík, Štěpán Kouřil, Julie de Sousa, Jaroslava Friedecká, David Friedecký, Veronika Barešová, Marie Zikánová, Tomáš Adam
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Metabolites
Subjects:
rare metabolic disorders
purine de novo synthesis
HeLa cells
metabolomics
mass spectrometry
Online Access:https://www.mdpi.com/2218-1989/12/3/241

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https://www.mdpi.com/2218-1989/12/3/241

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