Article

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome: mechanism of action and therapeutic potential

2023-03-30

Abstract excerpt

<h4>ABSTRACT</h4> Snyder-Robinson Syndrome (SRS) is caused by mutations in the spermine synthase ( SMS ) gene, the enzyme product of which converts the polyamine spermidine into spermine. Affecting primarily males, common manifestations of SRS include intellectual disability, osteoporosis, hypotonic musculature, and seizures, along with other, more variable symptoms. Currently, medical management focuses on trea...

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Literature Corpus work: d7dba0c4-c6e3-5e5d-adc6-a1b4370b8a09
DOI: 10.1101/2023.03.30.534977

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