Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX)

By afschroeder • July 4, 2026

Anderson KE, Desnick RJ, Bonkovsky HL, Balwani M, Barnes S, Beaven SW, Yeung AK, Erwin AL, Freeman M, Huda R, Kazamel M, Leaf RK, Keel SB, Levy C, Mazepa M, McGuire B, Moghe A, Naik H, Parker CJ, Phillips JD, Quigley JG, Ramanujam VS, Rudnick SR, Thapar M, Vercellotti GM, Wheeden K, Wang B, Yasuda M. Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX). Mol Genet Metab. 2026 Jun 7;148(4):110185. doi: 10.1016/j.ymgme.2026.110185. Epub ahead of print. PMID: 42398296.

Tags: Biochemical testing, Digestive Diseases, Genetic testing, Porphyria, Porphyrins, Publications, rare diseases

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