www.herba.sk 7 Literatúra 1. Gonzalez-Mosquera LF, Sonthalia S. Acute Intermittent Porphyria. 2023 May 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 31613445. 2. Horie Y, Yasuoka Y, Adachi T. Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study. Orphanet J Rare Dis. 2023 Dec 8;18(1):384. 3. Wagner MEU, Frost M, Frystyk J. Acute hepatic porphyria in Denmark; a retrospective study. Orphanet J Rare Dis. 2025 Feb 28;20(1):93. doi: 10.1186/s13023-025-03536-3. PMID: 40022110; PMCID: PMC11871779. 4. Lei JJ, Li S, Dong BX, Yang J, Ren Y. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity. Front Genet. 2024 Aug 12;15:1374965. doi: 10.3389/fgene.2024.1374965. PMID: 39188285; PMCID: PMC11345236. 5. Kizilaslan EZ, Ghadge NM, Martinez A, Bass M, Winayak R, Mathew M, Amin R, Khan M, Kizilbash N. Acute Intermittent Porphyria’s Symptoms and Management: A Narrative Review. Cureus. 2023 Mar 13;15(3):e36058. doi: 10.7759/cureus.36058. PMID: 37065381; PMCID: PMC10096751. 6. Ricci A, Di Pierro E, Marcacci M, Ventura P. Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias. Diagnostics (Basel). 2021 Nov 26;11(12):2205. 7. Jaramillo-Calle DA, Solano JM, Rabinstein AA, Bonkovsky HL. Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction. Mol Genet Metab. 2019 Nov;128(3):242-253. 8. Zheng X, Liu X, Wang Y, Zhao R, Qu L, Pei H, Tuo M, Zhang Y, Song Y, Ji X, Li H, Tang L, Yin X. Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review. Medicine (Baltimore). 2018 Sep;97(36):e11665. 9. Wang B, Bonkovsky HL, Lim JK, Balwani M. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. PMID: 36642627; PMCID: PMC10335308. 10. Dostupné na: https://www.msdmanuals.com/professional/endocrine-and-metabolic-disorders/the-porphyrias/acute-porphyrias 11. Brůha R, 1, 2Vítek L, 3Šperl J, 4Urbánek P., Doporučený postup České hepatologické společnosti ČLS JEP., Akutní porfyrie – diagnostika a léčba 12. Faigle R, Sutter R, Kaplan PW. Electroencephalography of encephalopathy in patients with endocrine and metabolic disorders. J Clin Neurophysiol. 2013 Oct;30(5):505-16. 13. Gandhi Mehta RK, Caress JB, Rudnick SR, Bonkovsky HL. Porphyric neuropathy. Muscle & Nerve. 2021;1–13. 14. Dostupné na: https://new.porphyrianet.org/en/content/treatment-acute-attack#01 15. Ruthirago, D., Julayanont, P., & Rassameehiran, S. (2016). Acute porphyrias and porphyric neuropathy. The Southwest Respiratory and Critical Care Chronicles, 4(15), 21-31. Retrieved from https://pulmonarychronicles.com/index.php/pulmonarychronicles/article/view/281 doi: 10.12746/swrccc2016.0415.197 16. The Drug Database for Acute Porphyria. The Norwegian Porphyria Centre (Napos). https://drugsporphyria.net/ accessed 1JAN2026. 17. Dickey AK, Leaf RK. Givosiran: a targeted treatment for acute intermittent porphyria. Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):426-433. doi: 10.1182/hematology.2024000663. PMID: 39644007; PMCID: PMC11665593. 18. Sardh E, Harper P. RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria. J Intern Med. 2022 May;291(5):593-610. doi: 10.1111/joim.13443. Epub 2022 Jan 23. PMID: 35067977.
RkJQdWJsaXNoZXIy MTYxNjU3OA==