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Gastroenterologie
a hepatologie

Gastroenterology and Hepatology

Gastroent Hepatol 2022; 76(2): 142. doi: 10.48095/ccgh2022142.

Recommended procedure of the Czech Society of Hepatology for the dia­gnosis and treatment of acute porphyrias – update 2022

Radan Brůha Orcid.org  1, Jan Šperl Orcid.org  2, Petr Urbánek Orcid.org  3, Libor Vítek1,4

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Literature

1. Brůha R, Vítek L, Šperl J et al. Czech Society of Hepatology guidelines for dia gnosis and treatment of acute porphyrias. Gastroenterol Hepatol 2017; 71(2): 101–104. doi: 10.14735/amgh2017101.
2. Ramanujam VS, Anderson KE. Porphyria dia­gnostics – part 1: a brief overview of the porphyrias. Curr Protoc Hum Genet 2015; 86: 17.20. 1–17.20.26. doi: 10.1002/0471142905.hg1720 s86.
3. Elder G, Harper P, Badminton M et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013; 36(5): 849–857. doi: 10.1007/s10545-012-9544-4.
4. Chen B, Solis-Villa C, Hakenberg J et al. Acute intermittent porphyria: predicted pathogenicity of HMBS variants indicates extremely low penetrance of the autosomal dominant disease. Hum Mutat 2016; 37(11): 1215–1222. doi: 10.1002/humu.23067.
5. Lenglet H, Schmitt C, Grange T et al. From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria. Hum Mol Genet 2018; 27(7): 1164–1173. doi: 10.1093/hmg/ddy030.

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