Diagnostic difficulty in a patient with recurrent attacks of acute polyneuropathy: Acute intermittent porphyria
Author:
Publisher
Cukurova Medical Journal
Subject
General Earth and Planetary Sciences,General Environmental Science
Reference14 articles.
1. 1. Stölzel U, Doss MO, Schuppan D. Clinical Guide and Update on Porphyrias. Gastroenterology. 2019; 157:365-381.e4.
2. 2. Ramanujam VMS, Anderson KE. Porphyria diagnostics-part 1: A brief overview of the porphyrias. Current Protocols in Human Genetics. 2015; 17.20.1-17.20.26.
3. 3. Spiritos Z, Salvador S, Mosquera D, Wilder J. Acute intermittent porphyria: Current perspectives and case presentation. Therapeutics and Clinical Risk Management. 2019; 15:1443–1451.
4. 4. Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN. Diagnostic strategies for autosomal dominant acute porphyrias: Retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clinical Chemistry. 2009; 55:1406–1414.
5. 5. Whatley SD, Badminton MN. Role of genetic testing in the management of patients with inherited porphyria and their families. Annals of Clinical Biochemistry.2013; 50:204–216.
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