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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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Rajasekaran, Surender, Bupp, Caleb P, Leimanis-Laurens, Mara, Shukla, Ankit, Russell, Christopher, Junewick, Joseph, Gleason, Emily, VanSickle, Elizabeth A, Edgerly, Yvonne, Wittmann, Bryan M, Prokop, Jeremy W, Bachmann, André S
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2021
Assuntos:
Genetics and Genomics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8291972/
https://ncbi.nlm.nih.gov/pubmed/34282722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.67097
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