Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)
We report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C. Given the very low prevalence of porphyria in the general population, diagnosis is rarely made initially and may mainly mimic Guil...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-09-01
|
| Series: | Brain Disorders |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666459324000453 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|