Results 51 to 60 of about 1,952 (187)
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 moredoaj +1 more sourceCollaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network
Clinical and Translational Science, Volume 19, Issue 6, June 2026.ABSTRACT
The Rare Diseases Clinical Research Network (RDCRN) was established to improve diagnosis, treatment, and research collaboration across rare diseases through collaborative, multi‐site, translational, and clinical research. Its governance framework promotes efficient data sharing and collaboration among research consortia, NIH representatives ...Mirna Chehade, Sheridan Meyers, Talaya McCright‐Gill, Rogerwene Gifford, Mustafa Sahin, Michael E. Shy, Michele Manion, Dakota Campbell, Marc E. Rothenberg, Maurizio Macaluso +9 morewiley +1 more sourceExpert‐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 morewiley +1 more sourceSurgical 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 moredoaj +1 more sourceHaplotype Analysis in Determination of the Heredity of Erythropoietic Protoporphyria among Swiss Families
, 2001 Defects in the human ferrochelatase gene lead to the hereditary disorder of erythropoietic protoporphyria. The clinical expression of this autosomal dominant disorder requires an allelic combination of a disabled mutant allele and a low-expressed ...Deybach, Jean-Charles, Minder, Elisabeth I., Schnyder, Cécile, Schneider-Yin, Xiaoye, Hergersberg, Martin, Rüfenacht, Urszula B. +5 morecore +1 more sourceThe 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 morewiley +1 more sourceData Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)
Clinical and Translational Science, Volume 18, Issue 9, September 2025.ABSTRACT
The Rare Diseases Clinical Research Network (RDCRN) comprises research consortia and other partners focused on the study of rare diseases. Its goals include sharing de‐identified data with the scientific community and other stakeholders to advance rare disease research.Elaine Schwendeman, Henry J. Kaminski, Adeline Vanderver, Michael Wagner, Eileen King, The RDCRN Data Use & Data Sharing Committee, Michael Benatar, Lori E. Crosby, Eileen King, Matthias Kretzler, Joanne Lumsden, Peter A. Merkel, Jill Morris, Susan Ruediger, Elaine Schwendeman, Tiina Urv, Adeline Vanderver, Maurizio Macaluso +17 morewiley +1 more source
