Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome
Abstract Snyder–Robinson syndrome (SRS) results from mutations in spermine synthase (SMS), which converts the polyamine spermidine into spermine. Affecting primarily males, common manifestations of SRS include intellectual disability, osteoporosis, hypotonia, and seizures. Symptom management is the...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Nature
2023-09-01
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| Σειρά: | EMBO Molecular Medicine |
| Θέματα: | |
| Διαθέσιμο Online: | https://doi.org/10.15252/emmm.202317833 |
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