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...
| الحاوية / القاعدة: | EMBO Molecular Medicine |
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| المؤلفون الرئيسيون: | , , , , , , , , |
| التنسيق: | مقال |
| اللغة: | الإنجليزية |
| منشور في: |
Springer Nature
2023-09-01
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.15252/emmm.202317833 |
