Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities. We described the therapeutic course for a rare syndrome diagnosed by whole exome sequencing caused by ga...

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Bibliographic Details
Main Authors: Surender Rajasekaran, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Joseph Junewick, Emily Gleason, Elizabeth A VanSickle, Yvonne Edgerly, Bryan M Wittmann, Jeremy W Prokop, André S Bachmann
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-07-01
Series:eLife
Subjects:
whole exome sequencing
repurposing drugs
global metabolomics
Online Access:https://elifesciences.org/articles/67097

Internet

https://elifesciences.org/articles/67097

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