Results 41 to 50 of about 3,099 (193)

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Oxidative stress, Nrf2 and keratin up‐regulation associate with Mallory‐Denk body formation in mouse erythropoietic protoporphyria [PDF]

, 2012
Mallory‐Denk bodies (MDBs) are hepatocyte inclusions commonly seen in steatohepatitis. They are induced in mice by feeding 3,5‐diethoxycarbonyl‐1,4‐dihydrocollidine (DDC) for 12 weeks, which also causes porphyrin accumulation.
Abou-Sleiman, Andersen, Askanas, Bardag-Gorce, Bloomer, Casanova-Gonzalez, Davies, Endo, Fontanellas, Hanada, Hanada, Harada, Inami, Kerns, Klaassen, Koningsberger, Ku, Libbrecht, Lyoumi, Magin, Magness, Matilla, McGuire, Mohanty, Nakamichi, Puy, Rakoski, Rufenacht, Snider, Strnad, Tangeras, Tao, Tutois, Whalen, Zatloukal   +34 more
core   +1 more source

Menthol reduces phototoxicity pain in a mouse model of photodynamic therapy [PDF]

, 2018
Phototoxicity-induced pain is a major clinical problem triggered by light acting on photosensitising drugs or endogenous porphyrins, notably protoporphyrin IX (PpIX), an intermediary in heme biosynthesis.
Baptista-Hon, Daniel, Bull, Fiona, Dalgaty, Faith, Gallacher, Michael, Hales, Tim G., Ibbotson, Sally H., Wright, Lisa   +6 more
core   +3 more sources

Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria [PDF]

Clinical and Molecular Hepatology, 2012
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting ...
Pyoung-Jae Park, Shin Hwang, Young-Il Choi, Young-Dong Yu, Gil-Chun Park, Sung-Won Jung, Sam-Youl Yoon, Gi-Won Song, Tae-Yong Ha, Sung-Gyu Lee   +9 more
doaj   +1 more source

Afamelanotide improves quality of life and light tolerance in Austrian erythropoietic protoporphyria patients

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background Erythropoietic protoporphyria (EPP) is a rare genetic disorder characterized by severe phototoxic reactions that occur within minutes of light exposure. In clinical studies, afamelanotide has been shown to prolong pain‐free sun exposure, improve quality of life, and reduce the frequency and severity of phototoxic reactions ...
Magdalena Seidl‐Philipp, Hanna Schratter, Johanna Auer, Gerold Schwantzer, Maximilian Lammer, Philipp Hinteregger, Ines Vergeiner, Robert Gruber, Peter Wolf, Angelika Hofer   +9 more
wiley   +1 more source

A Perspective on the Use of NB-UVB Phototherapy vs. PUVA Photochemotherapy [PDF]

, 2018
Narrowband UVB (NB-UVB) phototherapy and psoralen-UVA (PUVA) photochemotherapy are widely used phototherapeutic modalities for a range of skin diseases.
Ahmad, Archier, Archier, Aslam, Atzmony, Aydogan, Behrens-Williams, Berroeta, Bhatnagar, Bhatnagar, Bilsland, Bilsland, Bishnoi, Boswell, Brazzelli, Bruynzeel, Calzavara-Pinton, Calzavara-Pinton, Cameron, Cameron, Carter, Chalmers, Chauhan, Chen, Clayton, Collins, Cunningham, Dawe, Dawe, Dawe, Dawe, De, Decock, Der-Petrossian, Diederen, El-Mofty, Engin, Farnaghi, Fernandez-Guarino, Foerster, Garritsen, George, Godt, Gordon, Grandi, Green, Grundmann-Kollmann, Halpern, Harrop, Healy, Hearn, Hindson, Hindson, Hofer, Holme, Hoot, Hudson-Peacock, Ibbotson, Ibbotson, Iraji, Karvonen, Kerscher, Khafagy, Knobler, Kolde, Larko, Lever, Lindelof, Ling, Man, Man, Man, Man, Markham, Mastalier, Mckenna, Menage, Messenger, Millington, Mobacken, Mohamed, Morgado-Carrasco, Murray, Norris, Olsen, Parrish, Pavlovsky, Radakovic, Robinson, Roelandts, Roelandts, Ros, Rosen, Rosen, Rosen, Salem, Sapam, Sevrain, Sezer, Sivaramakrishnan, Snellman, Solak, Stern, Stern, Stern, Stern, Stern, Stern, Tanew, Tanew, Taylor, Tegner, Tzaneva, Van, Van, Wackernagel, Warren, Westerhof, Yones, Yones   +119 more
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Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Ferrochelatase is a therapeutic target for ocular neovascularization [PDF]

, 2017
Ocular neovascularization underlies major blinding eye diseases such as “wet” age-related macular degeneration (AMD). Despite the successes of treatments targeting the vascular endothelial growth factor (VEGF) pathway, resistant and refractory patient ...
Alkhairy, Sameerah, Babu, Sardar Sheik Pran, Basavarajappa, Halesha D., Boulton, Michael E., Briggs, Christian M., Corson, Timothy W., Grant, Maria B., Gupta, Kamna, Lee, Bit, Qi, Xiaoping, Quigley, Judith, Seo, Seung-Yong, Shadmand, Mehdi, Shetty, Trupti, Sishtla, Kamakshi L., Sulaiman, Rania S., Tang, Buyun   +16 more
core   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: G protein‐coupled receptors

British Journal of Pharmacology, Volume 182, Issue S1, Page S24-S151, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Anthony P. Davenport, Eamonn Kelly, Alasdair J. Gibb, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Maria Pia Abbracchio, George R. Abraham, Alexander Agoulnik, Wayne Alexander, Khaled Al‐hosaini, Magnus Bäck, Jillian G. Baker, Nicholas M. Barnes, Ross Bathgate, Jean‐Martin Beaulieu, Annette G. Beck‐Sickinger, Maik Behrens, Kirstie A. Bennett, Kenneth E. Bernstein, Bernhard Bettler, Nigel J. M. Birdsall, Victoria A. Blaho, Pascal Bonaventure, Francois Boulay, Corinne Bousquet, Hans Bräuner‐Osborne, Andrew J. Brown, Geoffrey Burnstock, Marta Busnelli, Girolamo Caló, Vanni Caruso, Justo P. Castaño, Kevin J. Catt, Stefania Ceruti, Paul Chazot, Nan Chiang, Bice Chini, Arthur Christopoulos, Jerold Chun, Antonia Cianciulli, Olivier Civelli, Lucie H. Clapp, Réjean Couture, Helen M. Cox, Zsolt Csaba, Claes Dahlgren, Frank M. Dautzenberg, Gordon Dent, Steven D. Douglas, Pascal Dournaud, Margarita L. Dubocovich, Satoru Eguchi, Emanuel Escher, Edward J. Filardo, Tung Fong, Huamei Fu Forsman, Marta Fumagalli, Raul R. Gainetdinov, Michael L. Garelja, Marc de Gasparo, Florence Gbahou, Craig Gerard, Marvin Gershengorn, Michelle Glass, David E. Gloriam, Fernand Gobeil, Theodore L. Goodfriend, Cyril Goudet, Lukas Grätz, Karen J. Gregory, Christian Gruber, Andrew L. Gundlach, Jörg Hamann, Julien Hanson, Deborah S. Hartman, Richard L. Hauger, Debbie L. Hay, Akos Heinemann, Laura Heitman, Deron R. Herr, Morley D. Hollenberg, Nicholas D. Holliday, Birgitte Holst, Mastgugu Horiuchi, Daniel Hoyer, László Hunyady, Ahsan Husain, Adriaan P. IJzerman, Tadashi Inagami, Paul A. Insel, Kenneth A. Jacobson, Laura H. Jacobson, Robert T. Jensen, Ralf Jockers, Deepa Jonnalagadda, Sadashiva Karnik, Klemens Kaupmann, Jacqueline Kemp, Charles Kennedy, Yasuyuki Kihara, Julia Kinsolving, Takio Kitazawa, Pawel Kozielewicz, Hans‐Jürgen Kreienkamp, Jyrki P. Kukkonen, Luxmichan Laishram, Tobias Langenhan, Christopher J. Langmead, Dan Larhammar, Katie Leach, Davide Lecca, John D. Lee, Susan E. Leeman, Jérôme Leprince, Rob Leurs, Xaria X. Li, Ines Liebscher, Stephen J. Lolait, Amelie Lupp, Robyn Macrae, Janet J. Maguire, Davide Malfacini, Maurice Manning, Davide Marangon, Kirill Martemyanov, Jean Mazella, Craig A. McArdle, Shlomo Melmed, Martin C. Michel, Laurence J. Miller, Vincenzo Mitolo, Bernard Mouillac, Christa E. Müller, Philip M. Murphy, Jean‐Louis Nahon, Richard R. Neubig, Tony Ngo, Xavier Norel, Duuamene Nyimanu, Anne‐Marie O’Carroll, Stefan Offermanns, Maria Antonietta Panaro, Marc Parmentier, Nicole Perry‐Hauser, Roger G. Pertwee, Jean‐Philippe Pin, Eric R. Prossnitz, Helena Chengxue Qin, Mark Quinn, Stefano Raffaele, Rithwik Ramachandran, Manisha Ray, Rainer K. Reinscheid, Alejandro Romeral Buzón, Philippe Rondard, Mette M. Rosenkilde, G. Enrico Rovati, Chiara Ruzza, Gareth J. Sanger, Nicole Scholz, Torsten Schöneberg, Gunnar Schulte, Stefan Schulz, Deborah L. Segaloff, Charles N. Serhan, Arun K. Shukla, Khuraijam Dhanachandra Singh, Craig M. Smith, Nicola J. Smith, Claudia Stäubert, Leigh A. Stoddart, Yukihiko Sugimoto, Roger Summers, Valerie P. Tan, David M. Thal, Walter ( Wally) Thomas, Pieter B. M. W. M. Timmermans, Kalyan Tirupula, Lawrence Toll, Giovanni Tulipano, Hamiyet Unal, Thomas Unger, Celine Valant, Patrick Vanderheyden, David Vaudry, Hubert Vaudry, Joseph G. Verbalis, Jean‐Pierre Vilardaga, Christopher S. Walker, Ji Ming Wang, Donald T. Ward, Hans‐Jürgen Wester, Gary B. Willars, Tom Lloyd Williams, Trent M. Woodruff, Huixian Wu, Cheng Yang, Chengcan Yao, Richard D. Ye, Nathan Zaidman   +206 more
wiley   +1 more source

Surgical treatment for breast cancer in a patient with erythropoietic protoporphyria and photosensitivity: a case report

Surgical Case Reports, 2021
Background Erythropoietic protoporphyria (EPP) is a rare disorder of heme synthesis. Patients with EPP mainly show symptoms of photosensitivity, but approximately 20% of EPPs are associated with the liver-related complications. We report a case of breast
Akiko Shimazaki, Takuma Hashimoto, Masaya Kai, Tetsuzo Nakayama, Mai Yamada, Karen Zaguirre, Kentaro Tokuda, Makoto Kubo, Ken Yamaura, Masafumi Nakamura   +9 more
doaj   +1 more source