11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
January 2025 in “Drug repurposing” This study reviewed 16 notable drug repurposing patent applications from 2025, highlighting potential new uses such as guanfacine for autonomic dysfunction and disulfiram for subarachnoid hemorrhage survival, though many disclosures lack peer-reviewed studies and no patents are granted.
233 citations
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July 1997 in “PubMed” In this study, targeting ornithine decarboxylase overexpression to hair follicle keratinocytes in mice was sufficient to promote skin tumor development without additional tumor promoters.