Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants
Author:
Publisher
BMJ
Subject
General Medicine,Pathology and Forensic Medicine
Reference41 articles.
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3. Role of genetic testing in the management of patients with inherited porphyria and their families;Whatley;Ann Clin Biochem,2013
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5. The incidence of inherited porphyrias in Europe;Elder;J Inherit Metab Dis,2013
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1. Intensivtherapie bei akuten Porphyrien;Springer Reference Medizin;2024
2. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11
3. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review;Medicine;2023-09-29
4. Intensivtherapie bei akuten Porphyrien;Die Intensivmedizin;2023
5. Porphyric neuropathy in black South Africans: a case series;Wits Journal of Clinical Medicine;2023
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