المؤلفون: Ogasawara, Akihito¹ (AUTHOR) ogasawara.akihito@mm.mt-pharma.co.jp, Ide, Ryosuke¹ (AUTHOR), Inoue, Shinsuke² (AUTHOR), Teng, Renli³ (AUTHOR), Kawaguchi, Atsuhiro¹ (AUTHOR)

المصدر: Clinical Pharmacology in Drug Development. Jul2024, Vol. 13 Issue 7, p729-738. 10p.

مصطلحات موضوعية: *MELANOCORTIN receptors, *ERYTHROPOIETIC protoporphyria, *PHARMACOKINETICS, *SYSTEMIC scleroderma, *KIDNEY physiology

المؤلفون: Leaf, Rebecca K.^1,2 (AUTHOR) jtrinidad@mgh.harvard.edu, Naik, Hetanshi³ (AUTHOR) naikh@stanford.edu, Jiang, Paul Y.⁴ (AUTHOR) pyjiang@mgh.harvard.edu, Elmariah, Sarina B.^5,6 (AUTHOR) sarina.elmariah@ucsf.edu, Hodges, Pamela¹ (AUTHOR) jmead1@mgb.org, Mead, Jennifer¹ (AUTHOR), Trinidad, John^2,5 (AUTHOR) bsaberi@bidmc.harvard.edu, Saberi, Behnam^2,7 (AUTHOR) deleaf@bwh.harvard.edu, Tran, Benny⁴ (AUTHOR) btran0@mgh.harvard.edu, Valiante, Sarah⁸ (AUTHOR) sarahvaliante@gmail.com, Mernick, Francesca⁸ (AUTHOR) fmernick@mgb.org, Leaf, David E.^2,9 (AUTHOR), Anderson, Karl E.¹⁰ (AUTHOR) kanderso@utmb.edu, Dickey, Amy K.^2,4 (AUTHOR) rkarp-leaf@mgh.harvard.edu

المصدر: Life (2075-1729). Jun2024, Vol. 14 Issue 6, p689. 9p.

مصطلحات موضوعية: *ERYTHROPOIETIC protoporphyria, *QUALITY of life, *PORPHYRIA, *HEME, *BIOSYNTHESIS

الشركة/الكيان: MASSACHUSETTS General Hospital

المؤلفون: Yasuda, Makiko¹ (AUTHOR) makiko.yasuda@mssm.edu, Lee, Sangmi¹ (AUTHOR) lin.gan@mssm.edu, Gan, Lin¹ (AUTHOR) robert.desnick@mssm.edu, Bergonia, Hector A.² (AUTHOR) hector.bergonia@hsc.utah.edu, Desnick, Robert J.¹ (AUTHOR), Phillips, John D.² (AUTHOR) john.phillips@hsc.utah.edu

المصدر: Biomolecules (2218-273X). Jan2024, Vol. 14 Issue 1, p27. 15p.

مصطلحات موضوعية: *ACUTE intermittent porphyria, *ERYTHROPOIETIC protoporphyria, *HEME oxygenase, *ERYTHROPOIETIC porphyria, *CIMETIDINE

المؤلفون: Madigan, Katelyn E.¹ (AUTHOR) kmadigan@wakehealth.edu, Rudnick, Sean R.¹ (AUTHOR) hbonkovs@wakehealth.edu, Agnew, Matthew A.² (AUTHOR) matagnew@wakehealth.edu, Urooj, Numra³ (AUTHOR) numra009@gmail.com, Bonkovsky, Herbert L.¹ (AUTHOR)

المصدر: Pharmaceuticals (14248247). Jan2024, Vol. 17 Issue 1, p31. 15p.

مصطلحات موضوعية: *ERYTHROPOIETIC protoporphyria, *ERYTHROCYTES, *GENETIC disorders, *GENE expression, *BIOSYNTHESIS

المؤلفون: Dickey, Amy, Naik, Hetanshi, Keel, Siobán, Levy, Cynthia, Erwin, Angelika, Goddu, Robert, Hedstrom, Karli, Leaf, Rebecca, Kazamel, Mohamed, Mazepa, Marshall, Philpotts, Lisa, Quigley, John, Raef, Haya, Rudnick, Sean, Saberi, Behnam, Thapar, Manish, Ungar, Jonathan, Balwani, Manisha, Beaven, Simon, Wang, Bruce, Elmariah, Sammy

المصدر: Journal of American Academy of Dermatology. 89(6)

مصطلحات موضوعية: EPP, X-linked protoporphyria, XLP, consensus, cutaneous porphyria, diagnosis, erythropoietic protoporphyria, evidence-based, guidelines, management, photodermatoses, protoporphyria, Humans, Dermatitis, Phototoxic, Genetic Diseases, X-Linked, Liver Diseases, Protoporphyria, Erythropoietic, Practice Guidelines as Topic

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/19n5564fTest

المؤلفون: Heerfordt, Ida M.¹ (AUTHOR) ida.marie.heerfordt@regionh.dk, Philipsen, Peter A.¹ (AUTHOR), Lerche, Catharina M.^1,2 (AUTHOR), Wulf, Hans Christian¹ (AUTHOR)

المصدر: Experimental Dermatology. Jul2023, Vol. 32 Issue 7, p1042-1047. 6p.

مصطلحات موضوعية: *ERYTHROPOIETIC protoporphyria, *VISIBLE spectra, *TREATMENT effectiveness, *ULTRAVIOLET radiation, *PHOTOSENSITIVITY, *URTICARIA

المؤلفون: Rovaris, Sara¹ (AUTHOR) s.rovaris@unibs.it, La Rosa, Giuseppe¹ (AUTHOR) g.larosa@unibs.it, Mezzana, Sara¹ (AUTHOR) s.mezzana@unibs.it, Tonon, Francesco¹ (AUTHOR) f.tonon@unibs.it, Mori, Luigi² (AUTHOR) luigi.mori@unibs.it, Monti, Eugenio² (AUTHOR) eugenio.monti@unibs.it, Mazzeo, Giuseppe² (AUTHOR) giuseppe.mazzeo@unibs.it, Calzavara-Pinton, Piergiacomo¹ (AUTHOR) piergiacomo.calzavarapinton@unibs.it, Arisi, Mariachiara¹ (AUTHOR) mariachiara.arisi@gmail.com

المصدر: Dermatology Reports. 2024, Vol. 16 Issue 2, p1-2. 2p.

مصطلحات موضوعية: *ERYTHROPOIETIC protoporphyria, *SUNSHINE, *GENETIC polymorphisms, *DIAGNOSIS, *DNA

المؤلفون: Balwani, Manisha, Naik, Hetanshi, Overbey, Jessica R, Bonkovsky, Herbert L, Bissell, D Montgomery, Wang, Bruce, Phillips, John D, Desnick, Robert J, Anderson, Karl E

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Liver Disease, Digestive Diseases, Rare Diseases, Hematology, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Erythropoietic protoporphyria, X -linked protoporphyria, Photosensitivity, Clinical trial, Iron, ALAS2, 5-aminolevulinate synthase 2, DSMB, Data and Safety Monitoring Board, EPP, erythropoietic protoporphyria, FECH, ferrochelatase, IRE, iron-responsive element, IRP, IRE binding proteins, QoL, Quality of Life, X-linked protoporphyria, XLP, X linked protoporphyria, ePPIX, erythrocyte protoporphyrin, Biochemistry and Cell Biology, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/415867dsTest

المؤلفون: Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H

المصدر: Patient Related Outcome Measures, Vol Volume 15, Pp 17-30 (2024)

مصطلحات موضوعية: erythropoietic protoporphyria, porphyria, patient-reported outcome development, qualitative interviews, rare disease, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/development-and-content-validation-of-novel-patient-reported-outcome-m-peer-reviewed-fulltext-article-PROMTest; https://doaj.org/toc/1179-271XTest

الوصول الحر: https://doaj.org/article/152063e7f6604ac08742e6e15a3ce69fTest

المؤلفون: Barman-Aksözen, Jasmin¹ (AUTHOR), Andreoletti, Mattia² (AUTHOR), Blasimme, Alessandro² (AUTHOR) alessandro.blasimme@hest.ethz.ch

المصدر: Orphanet Journal of Rare Diseases. 10/16/2023, Vol. 18 Issue 1, p1-3. 3p.

مصطلحات موضوعية: *ERYTHROPOIETIC protoporphyria, *PLACEBOS, *TEST design

مصطلحات جغرافية: EUROPE