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For: Peoc'h K, Manceau H, Karim Z, Wahlin S, Gouya L, Puy H, Deybach JC. Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword. Mol Genet Metab 2019;128:236-241. [PMID: 30413387 DOI: 10.1016/j.ymgme.2018.10.001] [Citation(s) in RCA: 31] [Impact Index Per Article: 5.2] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/07/2018] [Revised: 10/05/2018] [Accepted: 10/05/2018] [Indexed: 02/08/2023]
Number Cited by Other Article(s)
1
Lissing M, Wang B, Wahlin S. Liver transplantation and primary liver cancer in porphyria. Liver Int 2025;45:e15894. [PMID: 38456621 PMCID: PMC11815609 DOI: 10.1111/liv.15894] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/26/2024] [Revised: 02/22/2024] [Accepted: 02/28/2024] [Indexed: 03/09/2024]
2
Naik H, Brown M, Meninger S, Lombardelli S. Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study. Mol Genet Metab Rep 2025;42:101174. [PMID: 39811158 PMCID: PMC11731774 DOI: 10.1016/j.ymgmr.2024.101174] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/05/2024] [Revised: 11/21/2024] [Accepted: 12/02/2024] [Indexed: 01/16/2025]  Open
3
Ramanujam VMS, Moghe A, Huda R, Turner SB, Anderson KE. Porphyria Diagnostics Part 2: Essential Biochemical Testing for Diagnosis of the Porphyrias. Curr Protoc 2025;5:e70092. [PMID: 39927625 DOI: 10.1002/cpz1.70092] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/11/2025]
4
Francisco Idiaquez J, Khandelwal A, Nassar BA, Thoni AJ, Mann A, Prasad C, O'Brien A, Sholzberg M, Colantonio DA, Bril V. Canadian guidance for diagnosis and management of acute hepatic porphyrias. Clin Biochem 2024;131-132:110792. [PMID: 38992557 DOI: 10.1016/j.clinbiochem.2024.110792] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/29/2024] [Revised: 07/04/2024] [Accepted: 07/08/2024] [Indexed: 07/13/2024]
5
Duarte TL, Viveiros N, Godinho C, Duarte D. Heme (dys)homeostasis and liver disease. Front Physiol 2024;15:1436897. [PMID: 39135705 PMCID: PMC11317413 DOI: 10.3389/fphys.2024.1436897] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/22/2024] [Accepted: 07/15/2024] [Indexed: 08/15/2024]  Open
6
Balogun O, Nejak-Bowen K. The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease. Semin Liver Dis 2023;43:446-459. [PMID: 37973028 PMCID: PMC11256094 DOI: 10.1055/s-0043-1776760] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/19/2023]
7
Lissing M, Wester A, Vassiliou D, Floderus Y, Harper P, Sardh E, Wahlin S. Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients. J Inherit Metab Dis 2023;46:1186-1194. [PMID: 37650859 DOI: 10.1002/jimd.12676] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/25/2023] [Revised: 08/24/2023] [Accepted: 08/29/2023] [Indexed: 09/01/2023]
8
Belosevic A, Minder AE, Gueuning M, van Breemen F, Thun GA, Mattle-Greminger MP, Meyer S, Baumer A, Minder EI, Schneider-Yin X, Barman-Aksözen J. First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. Life (Basel) 2023;13:1889. [PMID: 37763293 PMCID: PMC10533070 DOI: 10.3390/life13091889] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/14/2023] [Revised: 09/04/2023] [Accepted: 09/05/2023] [Indexed: 09/29/2023]  Open
9
Guida CC, Nardella M, Fiorentino L, Latiano T, Napolitano F, Ferrara G, Crisetti A, Mazzoccoli G, Aucella F, Aucella F. Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report. J Clin Med 2023;12:jcm12093091. [PMID: 37176532 PMCID: PMC10178950 DOI: 10.3390/jcm12093091] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/03/2023] [Revised: 04/19/2023] [Accepted: 04/22/2023] [Indexed: 05/15/2023]  Open
10
Menezes PR, Trufen CEM, Lichtenstein F, Pellegrina DVDS, Reis EM, Onuki J. Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity. Arch Biochem Biophys 2023;738:109540. [PMID: 36746260 DOI: 10.1016/j.abb.2023.109540] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/16/2022] [Revised: 12/23/2022] [Accepted: 02/03/2023] [Indexed: 02/05/2023]
11
Wang B, Bonkovsky HL, Lim JK, Balwani M. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology 2023;164:484-491. [PMID: 36642627 PMCID: PMC10335308 DOI: 10.1053/j.gastro.2022.11.034] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/29/2022] [Revised: 10/28/2022] [Accepted: 11/20/2022] [Indexed: 01/17/2023]
12
Brenner DM, Brandt LJ, Fenster M, Hamilton MJ, Kamboj AK, Oxentenko AS, Wang B, Chey WD. Rare, Overlooked, or Underappreciated Causes of Recurrent Abdominal Pain: A Primer for Gastroenterologists. Clin Gastroenterol Hepatol 2023;21:264-279. [PMID: 36180010 DOI: 10.1016/j.cgh.2022.09.022] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/09/2022] [Revised: 09/07/2022] [Accepted: 09/08/2022] [Indexed: 01/28/2023]
13
Lissing M, Vassiliou D, Harper P, Sardh E, Wahlin S. Comment on Ramai et al. Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review. Cancers 2022, 14, 2947. Cancers (Basel) 2023;15:795. [PMID: 36765753 PMCID: PMC9913564 DOI: 10.3390/cancers15030795] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/23/2022] [Accepted: 01/17/2023] [Indexed: 01/31/2023]  Open
14
Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment. LIFE (BASEL, SWITZERLAND) 2022;12:life12111858. [PMID: 36430993 PMCID: PMC9694773 DOI: 10.3390/life12111858] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/20/2022] [Revised: 11/03/2022] [Accepted: 11/09/2022] [Indexed: 11/16/2022]
15
Molina L, Zhu J, Trépo E, Bayard Q, Amaddeo G, Blanc JF, Calderaro J, Ma X, Zucman-Rossi J, Letouzé E, Chiche L, Bioulac-Sage P, Balabaud C, Possenti L, Decraecker M, Paradis V, Laurent A. Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma. J Hepatol 2022;77:1038-1046. [PMID: 35636578 PMCID: PMC10061578 DOI: 10.1016/j.jhep.2022.05.018] [Citation(s) in RCA: 19] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/02/2022] [Revised: 04/22/2022] [Accepted: 05/10/2022] [Indexed: 12/13/2022]
16
Wang B, Ventura P, Takase KI, Thapar M, Cassiman D, Kubisch I, Liu S, Sweetser MT, Balwani M. Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study. Orphanet J Rare Dis 2022;17:327. [PMID: 36028858 PMCID: PMC9419398 DOI: 10.1186/s13023-022-02463-x] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2022] [Accepted: 07/24/2022] [Indexed: 11/29/2022]  Open
17
Jerves T, Blau N, Ferreira CR. Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias. Mol Genet Metab 2022;136:118-124. [PMID: 35422340 PMCID: PMC9189061 DOI: 10.1016/j.ymgme.2022.03.011] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/10/2022] [Revised: 03/23/2022] [Accepted: 03/24/2022] [Indexed: 12/21/2022]
18
Lissing M, Vassiliou D, Floderus Y, Harper P, Bottai M, Kotopouli M, Hagström H, Sardh E, Wahlin S. Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals. J Intern Med 2022;291:824-836. [PMID: 35112415 PMCID: PMC9311710 DOI: 10.1111/joim.13463] [Citation(s) in RCA: 36] [Impact Index Per Article: 12.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
19
Córdoba KM, Jericó D, Sampedro A, Jiang L, Iraburu MJ, Martini PGV, Berraondo P, Avila MA, Fontanellas A. Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases. INTERNATIONAL REVIEW OF CELL AND MOLECULAR BIOLOGY 2022;372:55-96. [PMID: 36064267 DOI: 10.1016/bs.ircmb.2022.03.005] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/15/2023]
20
Sirch C, Khanna N, Frassetto L, Bianco F, Artero ML. Diagnosis of acute intermittent porphyria in a renal transplant patient: A case report. World J Transplant 2022;12:8-14. [PMID: 35096552 PMCID: PMC8771597 DOI: 10.5500/wjt.v12.i1.8] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/11/2021] [Revised: 11/16/2021] [Accepted: 01/06/2022] [Indexed: 02/06/2023]  Open
21
Wang B. Novel treatment options for acute hepatic porphyrias. Curr Opin Gastroenterol 2021;37:194-199. [PMID: 33769375 PMCID: PMC8104969 DOI: 10.1097/mog.0000000000000734] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
22
Saberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani M. Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology 2021;73:1736-1746. [PMID: 32681675 DOI: 10.1002/hep.31460] [Citation(s) in RCA: 33] [Impact Index Per Article: 8.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2019] [Revised: 06/26/2020] [Accepted: 07/01/2020] [Indexed: 12/17/2022]
23
Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S. Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians. Am J Med Sci 2021;362:113-121. [PMID: 33865828 DOI: 10.1016/j.amjms.2021.03.004] [Citation(s) in RCA: 25] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/02/2020] [Revised: 02/05/2021] [Accepted: 03/10/2021] [Indexed: 01/06/2023]
24
Lissing M, Nowak G, Adam R, Karam V, Boyd A, Gouya L, Meersseman W, Melum E, Ołdakowska‐Jedynak U, Reiter FP, Colmenero J, Sanchez R, Herden U, Langendonk J, Ventura P, Isoniemi H, Boillot O, Braun F, Perrodin S, Mowlem E, Wahlin S, European Liver and Intestine Transplant Association. Liver Transplantation for Acute Intermittent Porphyria. Liver Transpl 2021;27:491-501. [PMID: 37160035 PMCID: PMC8248103 DOI: 10.1002/lt.25959] [Citation(s) in RCA: 38] [Impact Index Per Article: 9.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/21/2020] [Revised: 10/19/2020] [Accepted: 11/03/2020] [Indexed: 12/14/2022]
25
PPO-Inhibiting Herbicides and Structurally Relevant Schiff Bases: Evaluation of Inhibitory Activities against Human Protoporphyrinogen Oxidase. Processes (Basel) 2021. [DOI: 10.3390/pr9020383] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]  Open
26
Linenberger M, Fertrin KY. Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP. HEMATOLOGY. AMERICAN SOCIETY OF HEMATOLOGY. EDUCATION PROGRAM 2020;2020:400-410. [PMID: 33275677 PMCID: PMC7727547 DOI: 10.1182/hematology.2020000124] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/02/2023]
27
Chidambaranathan-Reghupaty S, Fisher PB, Sarkar D. Hepatocellular carcinoma (HCC): Epidemiology, etiology and molecular classification. Adv Cancer Res 2020;149:1-61. [PMID: 33579421 PMCID: PMC8796122 DOI: 10.1016/bs.acr.2020.10.001] [Citation(s) in RCA: 505] [Impact Index Per Article: 101.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
28
de Oliveira Neves AC, Galván I. Models for human porphyrias: Have animals in the wild been overlooked?: Some birds and mammals accumulate significant amounts of porphyrins in the body without showing the injurious symptoms observed in human porphyrias. Bioessays 2020;42:e2000155. [PMID: 33155299 DOI: 10.1002/bies.202000155] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/22/2020] [Revised: 08/27/2020] [Indexed: 11/06/2022]
29
Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach J, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology 2020;71:1546-1558. [PMID: 31512765 PMCID: PMC7255459 DOI: 10.1002/hep.30936] [Citation(s) in RCA: 115] [Impact Index Per Article: 23.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/10/2019] [Accepted: 09/04/2019] [Indexed: 12/13/2022]
30
Fontanellas A, Ávila MA, Anderson KE, Deybach JC. Current and innovative emerging therapies for porphyrias with hepatic involvement. J Hepatol 2019;71:422-433. [PMID: 31102718 DOI: 10.1016/j.jhep.2019.05.003] [Citation(s) in RCA: 19] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/28/2019] [Revised: 04/24/2019] [Accepted: 05/03/2019] [Indexed: 01/19/2023]
31
Martini PGV, Guey LT. A New Era for Rare Genetic Diseases: Messenger RNA Therapy. Hum Gene Ther 2019;30:1180-1189. [PMID: 31179759 DOI: 10.1089/hum.2019.090] [Citation(s) in RCA: 56] [Impact Index Per Article: 9.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]  Open
32
Berraondo P, Martini PGV, Avila MA, Fontanellas A. Messenger RNA therapy for rare genetic metabolic diseases. Gut 2019;68:1323-1330. [PMID: 30796097 DOI: 10.1136/gutjnl-2019-318269] [Citation(s) in RCA: 75] [Impact Index Per Article: 12.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/12/2019] [Revised: 02/04/2019] [Accepted: 02/05/2019] [Indexed: 12/12/2022]
33
Photocutaneous Porphyrias. CURRENT DERMATOLOGY REPORTS 2019. [DOI: 10.1007/s13671-019-0253-1] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
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