• Reference Citation Analysis
  • v
  • v
  • Find an Article
Find an Article PDF (5050569)   Today's Articles (0)
For:  [Subscribe] [Scholar Register]
Number Cited by Other Article(s)
1
Zhang J, Kinch L, Katsonis P, Lichtarge O, Jagota M, Song YS, Sun Y, Shen Y, Kuru N, Dereli O, Adebali O, Alladin MA, Pal D, Capriotti E, Turina MP, Savojardo C, Martelli PL, Babbi G, Casadio R, Pucci F, Rooman M, Cia G, Tsishyn M, Strokach A, Hu Z, van Loggerenberg W, Roth FP, Radivojac P, Brenner SE, Cong Q, Grishin NV. Assessing predictions on fitness effects of missense variants in HMBS in CAGI6. Hum Genet 2025;144:173-189. [PMID: 39110250 PMCID: PMC12085147 DOI: 10.1007/s00439-024-02680-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2023] [Accepted: 05/17/2024] [Indexed: 02/21/2025]
2
Lei JJ, Li S, Dong BX, Yang J, Ren Y. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity. Front Genet 2024;15:1374965. [PMID: 39188285 PMCID: PMC11345236 DOI: 10.3389/fgene.2024.1374965] [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: 01/23/2024] [Accepted: 07/29/2024] [Indexed: 08/28/2024]  Open
3
Credo R, Kesey J, Bharadia D, Griswold J, Pang A. Acute Intermittent Porphyria in a Burn Patient: Case Study and Review of the Literature. J Burn Care Res 2024;45:790-795. [PMID: 37728521 DOI: 10.1093/jbcr/irad135] [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: 05/14/2023] [Indexed: 09/21/2023]
4
Ren Y, Li S, Lei JJ, Li R, Dong BX, Yang J. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review. Front Genet 2023;14:1291719. [PMID: 38148975 PMCID: PMC10750365 DOI: 10.3389/fgene.2023.1291719] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2023] [Accepted: 11/22/2023] [Indexed: 12/28/2023]  Open
5
Li S, Lei JJ, Dong BX, Ren Y, Yang J. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review. Medicine (Baltimore) 2023;102:e35144. [PMID: 37773850 PMCID: PMC10545320 DOI: 10.1097/md.0000000000035144] [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: 03/16/2023] [Accepted: 08/18/2023] [Indexed: 10/01/2023]  Open
6
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
7
Liang L, Meng H, Wu H, Zhao J. Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human HMBS protein. Front Mol Biosci 2023;10:1230798. [PMID: 37635937 PMCID: PMC10448817 DOI: 10.3389/fmolb.2023.1230798] [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: 05/29/2023] [Accepted: 08/03/2023] [Indexed: 08/29/2023]  Open
8
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]
9
Zhou YQ, Wang XQ, Jiang J, Huang SL, Dai ZJ, Kong QQ. Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report. World J Clin Cases 2022;10:12319-12327. [PMID: 36483813 PMCID: PMC9724524 DOI: 10.12998/wjcc.v10.i33.12319] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/11/2022] [Revised: 10/10/2022] [Accepted: 11/02/2022] [Indexed: 11/23/2022]  Open
10
Kazamel M, Pischik E, Desnick RJ. Pain in acute hepatic porphyrias: Updates on pathophysiology and management. Front Neurol 2022;13:1004125. [PMID: 36479055 PMCID: PMC9719963 DOI: 10.3389/fneur.2022.1004125] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/26/2022] [Accepted: 11/07/2022] [Indexed: 11/22/2022]  Open
11
Longo M, Paolini E, Meroni M, Dongiovanni P. Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution. Biomedicines 2022;10:biomedicines10030648. [PMID: 35327450 PMCID: PMC8945550 DOI: 10.3390/biomedicines10030648] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/11/2022] [Revised: 03/07/2022] [Accepted: 03/09/2022] [Indexed: 12/24/2022]  Open
12
Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria. Int J Mol Sci 2021;22:ijms222011008. [PMID: 34681668 PMCID: PMC8541332 DOI: 10.3390/ijms222011008] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2021] [Revised: 10/04/2021] [Accepted: 10/08/2021] [Indexed: 11/16/2022]  Open
13
Bustad HJ, Kallio JP, Laitaoja M, Toska K, Kursula I, Martinez A, Jänis J. Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism. iScience 2021;24:102152. [PMID: 33665570 PMCID: PMC7907807 DOI: 10.1016/j.isci.2021.102152] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2020] [Revised: 12/03/2020] [Accepted: 02/02/2021] [Indexed: 11/16/2022]  Open
14
Sato H, Sugishima M, Tsukaguchi M, Masuko T, Iijima M, Takano M, Omata Y, Hirabayashi K, Wada K, Hisaeda Y, Yamamoto K. Crystal structures of hydroxymethylbilane synthase complexed with a substrate analog: a single substrate-binding site for four consecutive condensation steps. Biochem J 2021;478:1023-1042. [PMID: 33600566 PMCID: PMC7959689 DOI: 10.1042/bcj20200996] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/17/2020] [Revised: 02/10/2021] [Accepted: 02/12/2021] [Indexed: 11/30/2022]
15
Heckl C, Eisel M, Lang A, Homann C, Paal M, Vogeser M, Rühm A, Sroka R. Spectroscopic methods to quantify molecules of the heme‐biosynthesis pathway: A review of laboratory work and point‐of‐care approaches. TRANSLATIONAL BIOPHOTONICS 2021. [DOI: 10.1002/tbio.202000026] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]  Open
16
Buendía-Martínez J, Barreda-Sánchez M, Rodríguez-Peña L, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Pérez-Tomás ME, Gil-Ferrer R, Avilés-Plaza F, Glover-López G, Carazo-Díaz C, Guillén-Navarro E. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients. Orphanet J Rare Dis 2021;16:106. [PMID: 33639982 PMCID: PMC7913433 DOI: 10.1186/s13023-021-01742-3] [Citation(s) in RCA: 20] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2020] [Accepted: 02/11/2021] [Indexed: 12/19/2022]  Open
17
Agarwal S, Habtemarium B, Xu Y, Simon AR, Kim JB, Robbie GJ. Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levels. JIMD Rep 2021;57:85-93. [PMID: 33473344 PMCID: PMC7802627 DOI: 10.1002/jmd2.12173] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/22/2020] [Revised: 08/12/2020] [Accepted: 09/17/2020] [Indexed: 12/30/2022]  Open
18
Ma L, Tian Y, Peng C, Zhang Y, Zhang S. Recent advances in the epidemiology and genetics of acute intermittent porphyria. Intractable Rare Dis Res 2020;9:196-204. [PMID: 33139978 PMCID: PMC7586877 DOI: 10.5582/irdr.2020.03082] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/20/2020] [Revised: 08/07/2020] [Accepted: 08/11/2020] [Indexed: 02/07/2023]  Open
19
Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management. Curr Neurol Neurosci Rep 2020;20:56. [PMID: 33026560 DOI: 10.1007/s11910-020-01078-8] [Citation(s) in RCA: 18] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/29/2020] [Indexed: 12/20/2022]
20
Baumann K, Kauppinen R. Penetrance and predictive value of genetic screening in acute porphyria. Mol Genet Metab 2020;130:87-99. [PMID: 32067921 DOI: 10.1016/j.ymgme.2020.02.003] [Citation(s) in RCA: 10] [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: 10/03/2019] [Revised: 02/05/2020] [Accepted: 02/06/2020] [Indexed: 12/23/2022]
21
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]
22
Chen B, Wang M, Gan L, Zhang B, Desnick RJ, Yasuda M. Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP. Mol Genet Metab 2019;128:382-390. [PMID: 30777612 PMCID: PMC6612539 DOI: 10.1016/j.ymgme.2018.12.010] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/07/2018] [Revised: 12/03/2018] [Accepted: 12/24/2018] [Indexed: 12/12/2022]
23
Stölzel U, Doss MO, Schuppan D. Clinical Guide and Update on Porphyrias. Gastroenterology 2019;157:365-381.e4. [PMID: 31085196 DOI: 10.1053/j.gastro.2019.04.050] [Citation(s) in RCA: 97] [Impact Index Per Article: 16.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/27/2018] [Revised: 04/07/2019] [Accepted: 04/10/2019] [Indexed: 12/24/2022]
24
Sardh E, Harper P, Balwani M, Stein P, Rees D, Bissell DM, Desnick R, Parker C, Phillips J, Bonkovsky HL, Vassiliou D, Penz C, Chan-Daniels A, He Q, Querbes W, Fitzgerald K, Kim JB, Garg P, Vaishnaw A, Simon AR, Anderson KE. Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria. N Engl J Med 2019;380:549-558. [PMID: 30726693 DOI: 10.1056/nejmoa1807838] [Citation(s) in RCA: 189] [Impact Index Per Article: 31.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
25
Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazrenko I, Phillips JD, Desnick RJ, Yasuda M. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. J Inherit Metab Dis 2019;42:186-194. [PMID: 30740734 PMCID: PMC6162174 DOI: 10.1002/jimd.12040] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
26
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. Clin Chim Acta 2018;479:1-6. [PMID: 29317194 DOI: 10.1016/j.cca.2018.01.009] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/10/2017] [Revised: 12/28/2017] [Accepted: 01/06/2018] [Indexed: 11/20/2022]
27
Fortgens P, Pienaar E, Corrigall A, Sonderup M, Spearman CW, Meissner P. Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants. J Clin Pathol 2016;70:515-520. [PMID: 27849156 DOI: 10.1136/jclinpath-2016-203907] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/31/2016] [Revised: 10/20/2016] [Accepted: 10/25/2016] [Indexed: 11/04/2022]
28
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). JIMD Rep 2014. [PMID: 24997713 DOI: 10.1007/8904_2014_320] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/01/2024]  Open
29
Harper P, Sardh E. Management of acute intermittent porphyria. Expert Opin Orphan Drugs 2014. [DOI: 10.1517/21678707.2014.891456] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
30
Sardh E, Wahlin S, Björnstedt M, Harper P, Andersson DEH. High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria. J Inherit Metab Dis 2013;36:1063-71. [PMID: 23344888 DOI: 10.1007/s10545-012-9576-9] [Citation(s) in RCA: 56] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/28/2012] [Revised: 11/21/2012] [Accepted: 12/12/2012] [Indexed: 12/29/2022]
31
Marsden JT, Rees DC. Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria. J Clin Pathol 2013;67:60-5. [DOI: 10.1136/jclinpath-2012-201367] [Citation(s) in RCA: 36] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
32
Lin CSY, Park SB, Krishnan AV. Porphyric neuropathy. HANDBOOK OF CLINICAL NEUROLOGY 2013;115:613-627. [PMID: 23931806 DOI: 10.1016/b978-0-444-52902-2.00036-9] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/02/2023]
33
Aarsand AK, Villanger JH, Støle E, Deybach JC, Marsden J, To-Figueras J, Badminton M, Elder GH, Sandberg S. European Specialist Porphyria Laboratories: Diagnostic Strategies, Analytical Quality, Clinical Interpretation, and Reporting As Assessed by an External Quality Assurance Program. Clin Chem 2011;57:1514-23. [DOI: 10.1373/clinchem.2011.170357] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
34
Lin CSY, Lee MJ, Park SB, Kiernan MC. Purple pigments: the pathophysiology of acute porphyric neuropathy. Clin Neurophysiol 2011;122:2336-44. [PMID: 21855406 DOI: 10.1016/j.clinph.2011.07.036] [Citation(s) in RCA: 30] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2011] [Revised: 07/07/2011] [Accepted: 07/08/2011] [Indexed: 10/15/2022]
35
Tollånes MC, Aarsand AK, Sandberg S. Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study. J Inherit Metab Dis 2011;34:217-23. [PMID: 20978938 PMCID: PMC3026662 DOI: 10.1007/s10545-010-9231-2] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/30/2010] [Revised: 10/01/2010] [Accepted: 10/07/2010] [Indexed: 12/19/2022]
36
Surin VL, Luchinina YA, Selivanova DS, Pustovoit YS, Karpova IV, Pivnik AV, Luk’ianenko AV, Kravchenko SK. Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene. RUSS J GENET+ 2010. [DOI: 10.1134/s1022795410040149] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
37
Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010;375:924-37. [PMID: 20226990 DOI: 10.1016/s0140-6736(09)61925-5] [Citation(s) in RCA: 508] [Impact Index Per Article: 33.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
38
Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet 2009;19:584-96. [PMID: 19934113 DOI: 10.1093/hmg/ddp525] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]  Open
39
Bylesjö I, Wikberg A, Andersson C. Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study. Scandinavian Journal of Clinical and Laboratory Investigation 2009;69:612-8. [PMID: 19401933 DOI: 10.1080/00365510902935979] [Citation(s) in RCA: 68] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/20/2022]
40
Ventura P, Cappellini MD, Rocchi E. The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine. Intern Emerg Med 2009;4:297-308. [PMID: 19479318 DOI: 10.1007/s11739-009-0261-4] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/19/2009] [Accepted: 04/29/2009] [Indexed: 10/20/2022]
41
Pfäfflin A. Remarks on the acute intermittent porphyria. Ann Clin Biochem 2009;46:347-8; author reply 348. [DOI: 10.1258/acb.2009.009069] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022]
42
Aarsand AK, Boman H, Sandberg S. Familial and Sporadic Porphyria Cutanea Tarda: Characterization and Diagnostic Strategies. Clin Chem 2009;55:795-803. [DOI: 10.1373/clinchem.2008.117432] [Citation(s) in RCA: 33] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
43
Sardh E, Harper P, Andersson DEH, Floderus Y. Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks. Eur J Intern Med 2009;20:201-7. [PMID: 19327613 DOI: 10.1016/j.ejim.2008.06.012] [Citation(s) in RCA: 24] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/26/2008] [Revised: 05/08/2008] [Accepted: 06/09/2008] [Indexed: 11/23/2022]
44
Elder GH, Sandberg S. Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. ACTA ACUST UNITED AC 2008;4:648-9. [DOI: 10.1038/ncpneuro0946] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/18/2008] [Accepted: 10/01/2008] [Indexed: 11/09/2022]
45
Yang CC, Kuo HC, You HL, Wang J, Huang CC, Liu CY, Lan MY, Stephenson DA, Lee MJ. HMBSMutations in Chinese Patients with Acute Intermittent Porphyria. Ann Hum Genet 2008;72:683-6. [DOI: 10.1111/j.1469-1809.2008.00463.x] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
46
Schneider-Yin X, Ulbrichova D, Mamet R, Martasek P, Marohnic CC, Goren A, Minder EI, Schoenfeld N. Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. Mol Genet Metab 2008;94:343-6. [PMID: 18406650 DOI: 10.1016/j.ymgme.2008.03.001] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/06/2008] [Accepted: 03/06/2008] [Indexed: 10/22/2022]
47
Pischik E, Kazakov V, Kauppinen R. Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy? J Neurol 2008;255:974-9. [PMID: 18574620 DOI: 10.1007/s00415-008-0779-9] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/08/2007] [Revised: 10/02/2007] [Accepted: 10/16/2007] [Indexed: 11/30/2022]
48
Raigal Martín MY, Lledó Navarro JL, Raigal Martín JM, Muriel Patino E, Pérez Pérez E, Moreno Prat M. [Acute intermittent porphyria and chronic transaminase elevation]. GASTROENTEROLOGIA Y HEPATOLOGIA 2008;31:225-8. [PMID: 18405488 DOI: 10.1157/13117900] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
49
Hsieh CH, Tsai HH, Lu TH, Chen YC, Hsieh MW, Chuang YC. Acute intermittent porphyria with peripheral neuropathy complicated by small-fiber neuropathy. Neuropathology 2007;27:133-8. [PMID: 17494514 DOI: 10.1111/j.1440-1789.2006.00751.x] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
50
Bosworth BP, Landzberg BR. Neurological Manifestations of Gastrointestinal and Hepatic Diseases. Neurobiol Dis 2007. [DOI: 10.1016/b978-012088592-3/50065-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]  Open
PrevPage 1 of 2 12Next
© 2004-2025 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Excel