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Autor:
Abeer Zakariyah, Rahaf Alzahrani, Iman Alhazmi, Alia Abotaleb, Mohammed Alasmari, Abdulrahim Basendwah, Rasha Alsubaie, Muhammad Sohaib Khan, Leena Alnajjar, Sultan Altouri
Publikováno v:
Journal of Applied Hematology, Vol 15, Iss 2, Pp 147-151 (2024)
Mutations in the hydroxymethylbilane synthase (HMBS) gene can lead to a deficiency of the HMBS enzyme, allowing porphyrins to accumulate to toxic levels in the liver and other organs, leading to acute intermittent porphyria (AIP). This case report de
Externí odkaz:
https://doaj.org/article/3adb7900fb4b4e32976871c8903f6ced
