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Research Article

Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria - diagnosis, care and monitoring of the patient

Pages 581-604 | Published online: 08 Jul 2009

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Read on this site (2)

Loukas Kakoullis, Stylianos Louppides, Eleni Papachristodoulou & George Panos. (2018) Porphyrias and photosensitivity: pathophysiology for the clinician. Postgraduate Medicine 130:8, pages 673-686.
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Elisabeth I. Minder, Jasmin Barman-Aksoezen, Michèle Nydegger & Xiaoye Schneider-Yin. (2016) Existing therapies and therapeutic targets for erythropoietic protoporphyria. Expert Opinion on Orphan Drugs 4:6, pages 577-589.
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Mattias Lissing, Bruce Wang & Staffan Wahlin. (2024) Liver transplantation and primary liver cancer in porphyria. Liver International.
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Elena Di Pierro, Francesca Granata, Michele De Canio, Mariateresa Rossi, Andrea Ricci, Matteo Marcacci, Giacomo De Luca, Luisa Sarno, Luca Barbieri, Paolo Ventura & Giovanna Graziadei. (2022) Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria. Diagnostics 12:1, pages 151.
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Chie TAKASU, Kozo YOSHIKAWA, Takuya TOKUNAGA, Masaaki NISHI, Hideya KASHIHARA & Mitsuo SHIMADA. (2022) A Case of Acute Appendicitis with Erythropoietic Protoporphyria in which Elective Surgery was Performed Using a Special Film特殊フィルターを用い待機的に切除したポルフィリン症併存急性虫垂炎の1例. Nihon Rinsho Geka Gakkai Zasshi (Journal of Japan Surgical Association) 83:8, pages 1491-1495.
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Alvise Sernicola, Elena Cama, Maria Guglielmina Pelizzo, Enrico Tessarolo, Annamaria Nicolli, Giulia Viero & Mauro Alaibac. (2021) In vitro Assessment of Solar Filters for Erythropoietic Protoporphyria in the Action Spectrum of Protoporphyrin IX. Frontiers in Medicine 8.
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Christian Heckl, Maximilian Eisel, Alexander Lang, Christian Homann, Michael Paal, Michael Vogeser, Adrian Rühm & Ronald Sroka. (2021) Spectroscopic methods to quantify molecules of the heme‐biosynthesis pathway: A review of laboratory work and point‐of‐care approaches. Translational Biophotonics 3:2.
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Patrycja Juchniewicz, Ewa Piotrowska, Anna Kloska, Magdalena Podlacha, Jagoda Mantej, Grzegorz Węgrzyn, Stefan Tukaj & Joanna Jakóbkiewicz-Banecka. (2021) Dosage Compensation in Females with X-Linked Metabolic Disorders. International Journal of Molecular Sciences 22:9, pages 4514.
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Robert J. Desnick, Manisha Balwani & Karl E. Anderson. 2021. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics 373 411 .
Brittany C. KunzSharon A. CenterJohn F. RandolphJanelle D. WalkerApril E. ChoiKarl E. Anderson. (2020) Congenital erythropoietic protoporphyria and protoporphyric hepatopathy in a dog. Journal of the American Veterinary Medical Association 257:11, pages 1148-1156.
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Zaid S. Ardalan, Sujievvan Chandran, Abhinav Vasudevan, Peter W. Angus, Andrew Grigg, Simon He, Graeme A. Macdonald, Simone I. Strasser, Courtney J. Tate, Glen A. Kennedy, Adam G. Testro & Paul J. Gow. (2019) Management of Patients With Erythropoietic Protoporphyria–Related Progressive Liver Disease. Liver Transplantation 25:11, pages 1620-1633.
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Fang Xu, Xiaomei Wang, Xiumei Chi, Xiuting He, Yue Qi, Huijuan Peng, Junqi Niu, Yanjun Cai & Pujun Gao. (2018) A Novel FECH Mutation Causes Erythropoietic Protoporphyria with Severe Liver Dysfunction. Hepatitis Monthly In Press:In Press.
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I.M. Heerfordt & H.C. Wulf. (2017) Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy . British Journal of Dermatology 177:3.
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Jasmin Barman-Aksözen, Paulina Ćwiek, Vijay B. Bansode, Frank Koentgen, Judith Trüb, Pawel Pelczar, Paolo Cinelli, Xiaoye Schneider-Yin, Daniel Schümperli & Elisabeth I. Minder. (2017) Modelling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. Disease Models & Mechanisms.
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I.M. Heerfordt & H.C. Wulf. (2016) Protoporphyrin IX in the skin measured noninvasively predicts photosensitivity in patients with erythropoietic protoporphyria. British Journal of Dermatology 175:6, pages 1284-1289.
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Julio A. Urrets-Zavalía, Evangelina Espósito, Iliana Garay, Rodolfo Monti, Alejandro Ruiz-Lascano, Leandro Correa, Horacio M. Serra & Andrzej Grzybowski. (2016) The eye and the skin in nonendocrine metabolic disorders. Clinics in Dermatology 34:2, pages 166-182.
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U. Urbanski, J. Frank & N. J. Neumann. (2015) Erythropoetische ProtoporphyrieErythropoietic protoporphyria. Der Hautarzt 67:3, pages 211-215.
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V. Brancaleoni, M. Balwani, F. Granata, G. Graziadei, P. Missineo, V. Fiorentino, S. Fustinoni, M.D. Cappellini, H. Naik, R.J. Desnick & E. Di Pierro. (2015) X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria. Clinical Genetics 89:1, pages 20-26.
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Amy S. Paller & Anthony J. Mancini. 2016. Hurwitz Clinical Pediatric Dermatology. Hurwitz Clinical Pediatric Dermatology 448 466.e4 .
María del Carmen Martinez, Silvina Fernanda Ruspini, Susana Graciela Afonso, Roberto Meiss, Ana Maria Buzaleh & Alcira Batlle. (2015) Experimental Protoporphyria: Effect of Bile Acids on Liver Damage Induced by Griseofulvin. BioMed Research International 2015, pages 1-10.
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M. del C. Martinez, S. G. Afonso, A. M. Buzaleh & A. Batlle. (2014) Protective Action of Antioxidants on Hepatic Damage Induced by Griseofulvin. The Scientific World Journal 2014, pages 1-8.
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Graham Thom, Minh Lam, Michaela Lucas & Enrico Rossi. (2013) Leukocytoclastic vasculitis masking chronic vascular changes in previously undiagnosed erythropoietic protoporphyria. Journal of Cutaneous Pathology 40:11, pages 966-971.
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M. P. M. Graham-Brown & A. Ilchyshyn. (2013) Development of acute phototoxic reaction during surgery in a patient with erythropoietic protoporphyria. Clinical and Experimental Dermatology 38:5, pages 566-568.
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S. Wahlin, H.-U. Marschall & B. Fischler. (2013) Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria. British Journal of Dermatology 168:6, pages 1311-1315.
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Bandar Al-Judaibi, Subrata Chakrabarti & Natasha Chandok. (2013) Shedding light on a painful rash. Arab Journal of Gastroenterology 14:2, pages 83-84.
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Francisco Javier García-Martínez, Enrique Gutiérrez-González, Julio Alonso-González, Ana Vega, Marta Santamariña, María Teresa Rodríguez-Granados & Jaime Toribio. (2013) Annular Elastolytic Giant Cell Granuloma Associated to Late-Onset X-Linked Dominant Protoporphyria. Dermatology 227:3, pages 238-242.
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R.J. Desnick, Manisha Balwani & Karl E. Anderson. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 32 .
Aasne K Aarsand, Jørild H Villanger, Egil Støle, Jean-Charles Deybach, Joanne Marsden, Jordi To-Figueras, Mike Badminton, George H Elder & Sverre Sandberg. (2011) European Specialist Porphyria Laboratories: Diagnostic Strategies, Analytical Quality, Clinical Interpretation, and Reporting As Assessed by an External Quality Assurance Program. Clinical Chemistry 57:11, pages 1514-1523.
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Staffan Wahlin, Per Stal, Rene Adam, Vincent Karam, Robert Porte, Daniel Seehofer, Bridget K. Gunson, Jens Hillingsø, Jürgen L. Klempnauer, Jan Schmidt, Graeme Alexander, John O'Grady, Pierre-Alain Clavien, Mauro Salizzoni, Andreas Paul, Keith Rolles, Bo-Göran Ericzon & Pauline Harper. (2011) Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transplantation 17:9, pages 1021-1026.
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Amy S. Paller & Anthony J. Mancini. 2011. Hurwitz Clinical Pediatric Dermatology. Hurwitz Clinical Pediatric Dermatology 436 453 .
Christine B. Warren, Laszlo J. Karai, Allison Vidimos & Edward V. Maytin. (2009) Pain associated with aminolevulinic acid-photodynamic therapy of skin disease. Journal of the American Academy of Dermatology 61:6, pages 1033-1043.
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Simone Negrini, Gabriele Zoppoli, Maurizio Setti, Maria Domenica Cappellini & Francesco Indiveri. (2008) Paralytic Ileus and Liver Failure—An Unusual Presentation of Advanced Erythropoietic Protoporphyria. Digestive Diseases and Sciences 54:2, pages 411-415.
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Staffan Wahlin, Nirthiga Srikanthan, Børge Hamre, Pauline Harper & Atle Brun. (2008) Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. Liver Transplantation 14:9, pages 1340-1346.
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Elena Di Pierro, Valentina Brancaleoni, Valeria Besana, Sabrina Ausenda, Stella Drury & Maria Domenica Cappellini. (2008) A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria. Blood Cells, Molecules, and Diseases 40:2, pages 233-236.
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A V Anstey & R J Hift. (2007) Liver disease in erythropoietic protoporphyria: insights and implications for management. Postgraduate Medical Journal 83:986, pages 739-748.
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Pauline Harper & Staffan Wahlin. (2008) Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. Current Treatment Options in Gastroenterology 10:6, pages 444-455.
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Shao-Na Zhou, Sheng-Xiang Xiao, Zhen-Hui Peng, Bo-Xun Li, Xiao-Li Li, Yan Liu & Su-Ju Luo. (2007) A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria. Journal of Dermatological Science 48:2, pages 145-147.
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Kathryn L. Nash, Timothy M. Cox & Graeme J. M. Alexander. (2007) Is cyclosporin the immunosuppressant of choice for liver transplantation for erythropoietic protoporphyria?. Transplant International 0:0, pages 071017161259002-???.
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Karin E. R. Gooijert, Rick Havinga, Alida R. Oosterloo-Duinkerken, Enge E. A. Venekamp-Hoolsema, Folkert Kuipers & Henkjan J. Verkade. (2007) Stimulation of fecal fat excretion and the disposal of protoporphyrin in a murine model for erythropoietic protoporphyria. American Journal of Physiology-Gastrointestinal and Liver Physiology 293:2, pages G510-G516.
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Kelly Susan C.Purcell Stephen M.Griffin Thomas D.. (2007) Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria). Pediatric Dermatology 24:3.
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E Di Pierro, V Brancaleoni, V Moriondo, V Besana & MD Cappellini. (2006) Co‐existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria. Clinical Genetics 71:1, pages 84-88.
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Staffan Wahlin, Johan Aschan, Mikael Björnstedt, Ulrika Broomé & Pauline Harper. (2007) Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis. Journal of Hepatology 46:1, pages 174-179.
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Tomoko Asashima, Satoko Hori, Sumio Ohtsuki, Masanori Tachikawa, Masahiko Watanabe, Chisato Mukai, Shinji Kitagaki, Naoki Miyakoshi & Tetsuya Terasaki. (2006) ATP-Binding Cassette Transporter G2 Mediates the Efflux of Phototoxins on the Luminal Membrane of Retinal Capillary Endothelial Cells. Pharmaceutical Research 23:6, pages 1235-1242.
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Malcolm Danton & Chang Kee Lim. (2006) Porphyrin profiles in blood, urine and faeces by HPLC/electrospray ionization tandem mass spectrometry. Biomedical Chromatography 20:6-7, pages 612-621.
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M. Bruguera & C. Herrero. (2005) Enfermedad hepática en la protoporfiria eritropoyética. Gastroenterología y Hepatología 28:10, pages 632-636.
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Wided Najahi-MissaouiHarry A. Dailey. (2005) Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases. Blood 106:3, pages 1098-1104.
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Elena Di Pierro, Maria Domenica Cappellini, Renata Mazzucchelli, Valeria Moriondo, Daniela Mologni, Barbara Zanone Poma & Agostino Riva. (2005) A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria. Experimental Hematology 33:5, pages 584-591.
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M M D Kooijman & H S Brand. (2005) Oral aspects of porphyria. International Dental Journal 55:2, pages 61-66.
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E. Rocchi, P. Ventura, A. Ronzoni, M. C. Rosa, C. Gozzi, L. Marri, G. Casalgrandi & M. D. Cappellini. (2004) Pro‐oxidant and antioxidant factors in acute intermittent porphyria: Family studies. Journal of Inherited Metabolic Disease 27:2, pages 251-266.
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Patricia Eguino Gorrochategui, Carmen Varas Mundaca, Izaskun Trébol Urra, Belén Navajas Pinedo, Jesús Gardeazabal García & José Luis Díaz-Pérez. (2003) Protoporfiria eritropoyética: Estudio de cuatro casos y revisión de la literatura. Actas Dermo-Sifiliográficas 94:1-2, pages 93-98.
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M. Lecha. (2003) Erythropoietic protoporphyria. Photodermatology, Photoimmunology & Photomedicine 19:3, pages 142-146.
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