Acute intermittent porphyria: A case report with an unlisted HMBSgene variant (c.345–2A>C)
| Autor: | Lerusse, Julien, Dive, Dominique, Wang, François Charles |
|---|---|
| Zdroj: | Brain Disorders; September 2024, Vol. 15 Issue: 1 |
| Abstrakt: | •Intermittent acute porphyria can mimic axonal Guillain-Barré syndrome.•We report an unlisted variant (c.345–2A>C) of the HMBSgene.•We describe our therapeutic management, clinical and electrophysiological follow-up. |
| Databáze: | Supplemental Index |
| Externí odkaz: |
|