Works matching DE "ERYTHROPOIETIC protoporphyria"

Results: 100

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03860-8

By:

Xiong, Hongli;
He, Song;
Yang, Zhaoxia;
Zheng, Ruizao;
Yu, Huihong

Publication type:

Article

Effect of Hepatic and Renal Impairment on the Pharmacokinetics of Dersimelagon (MT‐7117), an Oral Melanocortin‐1 Receptor Agonist.

Published in:

Clinical Pharmacology in Drug Development, 2024, v. 13, n. 7, p. 729, doi. 10.1002/cpdd.1413

By:

Ogasawara, Akihito;
Ide, Ryosuke;
Inoue, Shinsuke;
Teng, Renli;
Kawaguchi, Atsuhiro

Publication type:

Article

The Oral Bioavailability and Effect of Various Gastric Conditions on the Pharmacokinetics of Dersimelagon in Healthy Adult Volunteers.

Published in:

Clinical Pharmacology in Drug Development, 2023, v. 12, n. 5, p. 493, doi. 10.1002/cpdd.1235

By:

Ogawa, Kei;
Ide, Ryosuke;
Belongie, Kirstine;
Tsuda, Minoru;
Kawanishi, Hiroki;
Teng, Renli;
Ogasawara, Akihito

Publication type:

Article

Athena speciality certificate examination case for photodermatology.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 7, p. 1399, doi. 10.1111/ced.15240

By:

Dubash, Faisal;
Ibbotson, Sally

Publication type:

Article

Erratum.

Published in:: Clinical & Experimental Dermatology, 2015, v. 40, n. 5, p. 591, doi. 10.1111/ced.12640
Publication type:: Article

X-linked dominant protoporphyria: a new porphyria.

Published in:

Clinical & Experimental Dermatology, 2014, v. 39, n. 1, p. 35, doi. 10.1111/ced.12202

By:

Seager, M. J.;
Whatley, S. D.;
Anstey, A. V.;
Millard, T. P.

Publication type:

Article

New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 6, p. 601, doi. 10.1111/ced.12076

By:

Azad, J.;
Brennan, P.;
Carmichael, A. J.

Publication type:

Article

Development of acute phototoxic reaction during surgery in a patient with erythropoietic protoporphyria.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 5, p. 566, doi. 10.1111/ced.12188

By:

Graham‐Brown, M. P. M.;
Ilchyshyn, A.

Publication type:

Article

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.

Published in:

2024

By:

Rovaris, Sara;
La Rosa, Giuseppe;
Mezzana, Sara;
Tonon, Francesco;
Mori, Luigi;
Monti, Eugenio;
Mazzeo, Giuseppe;
Calzavara-Pinton, Piergiacomo;
Arisi, Mariachiara

Publication type:

Case Study

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.

Published in:

2024

By:

Rovaris, Sara;
La Rosa, Giuseppe;
Mezzana, Sara;
Tonon, Francesco;
Mori, Luigi;
Monti, Eugenio;
Mazzeo, Giuseppe;
Calzavara-Pinton, Piergiacomo;
Arisi, Mariachiara

Publication type:

Case Study

Highlights.

Published in:: Clinical Pharmacology & Therapeutics, 2023, v. 114, n. 2, p. 252, doi. 10.1002/cpt.2961
Publication type:: Article

Erythropoietic protoporphyria: Delayed presentation with decompensated liver disease.

Published in:

2020

By:

Sarda, Radhika;
Soneja, Manish

Publication type:

Case Study

X-linked dominant erythropoietic protoporphyria with early-onset manifestations caused by a hemizygous ALAS2 variant.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1760, doi. 10.1093/ced/llae234

By:

Srinivas, Sahana M;
Moss, Celia

Publication type:

Article

Erythropoietic protoporphyria and afamelanotide: a patient’s perspective.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 2, p. 186, doi. 10.1093/ced/llad346

By:

O’Reilly, Marese;
McGuire, Vicky A.;
Dawe, Robert S.

Publication type:

Article

Microcytosis in Erythropoietic Protoporphyria.

Published in:

Frontiers in Physiology, 2022, v. 13, p. 1, doi. 10.3389/fphys.2022.841050

By:

Graziadei, Giovanna;
Duca, Lorena;
Granata, Francesca;
De Luca, Giacomo;
De Giovanni, Anna;
Brancaleoni, Valentina;
Nava, Isabella;
Di Pierro, Elena

Publication type:

Article

Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria.

Published in:

Pharmaceuticals (14248247), 2024, v. 17, n. 1, p. 31, doi. 10.3390/ph17010031

By:

Madigan, Katelyn E.;
Rudnick, Sean R.;
Agnew, Matthew A.;
Urooj, Numra;
Bonkovsky, Herbert L.

Publication type:

Article

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 495, doi. 10.1111/cge.12968

By:

Kadara, H.;
Nemer, G.;
Safi, R.;
Rebeiz, N.;
Daou, L.;
Delbani, D.;
Btadini, W.;
Abbas, O.;
Tofaili, M.;
Bitar, F.;
Kibbi, A.G.;
Shimomura, Y.;
Kurban, M.

Publication type:

Article

Current trials in erythropoietic protoporphyria: are placebo controls ethical?

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02941-w

By:

Barman-Aksözen, Jasmin;
Andreoletti, Mattia;
Blasimme, Alessandro

Publication type:

Article

Erythematous patches on the hands.

Published in:

Journal of Family Practice, 2012, v. 61, n. 2, p. 101

By:

Kasper, David A.;
Centilli, Michael;
Silverton, Kimball

Publication type:

Article

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort.

Published in:

Life (2075-1729), 2024, v. 14, n. 6, p. 689, doi. 10.3390/life14060689

By:

Leaf, Rebecca K.;
Naik, Hetanshi;
Jiang, Paul Y.;
Elmariah, Sarina B.;
Hodges, Pamela;
Mead, Jennifer;
Trinidad, John;
Saberi, Behnam;
Tran, Benny;
Valiante, Sarah;
Mernick, Francesca;
Leaf, David E.;
Anderson, Karl E.;
Dickey, Amy K.

Publication type:

Article

Editorial on the Special Issue "Heme Metabolism and Porphyria".

Published in:

2024

By:

Di Pierro, Elena;
Barman-Aksözen, Jasmin;
Richard, Emmanuel

Publication type:

Editorial

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria.

Published in:

Life (2075-1729), 2023, v. 13, n. 4, p. 1066, doi. 10.3390/life13041066

By:

Minder, Anna-Elisabeth;
Schneider-Yin, Xiaoye;
Zulewski, Henryk;
Minder, Christoph E.;
Minder, Elisabeth I.

Publication type:

Article

Lipoid Proteinosis: A Rare Case Report and Review of Literature.

Published in:

2024

By:

Verma, Damini;
Mendiratta, Vibhu;
Yadav, Vidya;
Birla, Anjali;
Srivastava, Amol

Publication type:

Case Study

Liver disease and erythropoietic protoporphyria: A concise review.

Published in:

Annals of Gastroenterology & Hepatology, 2010, v. 8, n. 89, p. 4526, doi. 10.3748/wjg.v16.i36.4526

By:

Casanova-González, María José;
Trapero-Marugán, María;
Anthony Jones, E.;
Moreno-Otero, Ricardo

Publication type:

Article

An α-MSH Analog in Erythropoietic Protoporphyria.

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 929, doi. 10.1038/jid.2015.16

By:

Luger, Thomas A;
Böhm, Markus

Publication type:

Article

Clinical and biochemical improvement following low-dose intravenous iron therapy in a patient with erythropoietic protoporphyria.

Published in:

British Journal of Haematology, 2013, v. 163, n. 2, p. 289, doi. 10.1111/bjh.12485

By:

Bentley, Douglas P.;
Meek, Elizabeth M.

Publication type:

Article

Depressed Shiny Scars and Crusted Erosions.

Published in:

Cutis, 2020, v. 106, n. 2, p. 61, doi. 10.12788/cutis.0027

By:

Dai, Christina;
Seline, Alison E.;
Sokumbi, Olayemi

Publication type:

Article

CRISPR/Cas9-Mediated fech Knockout Zebrafish: Unraveling the Pathogenesis of Erythropoietic Protoporphyria and Facilitating Drug Screening.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10819, doi. 10.3390/ijms251910819

By:

Wijerathna, Hitihami M. S. M.;
Shanaka, Kateepe A. S. N.;
Raguvaran, Sarithaa S.;
Jayamali, Bulumulle P. M. V.;
Kim, Seok-Hyung;
Kim, Myoung-Jin;
Jung, Sumi;
Lee, Jehee

Publication type:

Article

Cardiopulmonary bypass in a child with erythropoietic protoporphyria.

Published in:

Australasian Journal of Dermatology, 2022, v. 63, n. 1, p. e60, doi. 10.1111/ajd.13751

By:

Pathman, Lydia;
Bennett, Martin;
d'Udekem, Yves;
Phillips, Roderic

Publication type:

Article

In Other Journals.

Published in:

2015

By:

Watson, Alan

Publication type:

Other

Hepatology: Portal vein cavernoma imitating cholangiocarcinoma in a patient with erythropoietic protoporphyria.

Published in:

Journal of Gastroenterology & Hepatology, 2014, v. 29, n. 10, p. 1755, doi. 10.1111/jgh.12729

By:

Saberi, B;
Deurdulian, C;
Pandya, H;
Kahn, JA

Publication type:

Article

Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 179, doi. 10.2147/tacg.s122030

By:

Lane, Ashley M.;
McKay, Jerome T.;
Bonkovsky, Herbert L.

Publication type:

Article

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2013, v. 27, n. 6, p. 754, doi. 10.1111/j.1468-3083.2012.04566.x

By:

Colombo, F.P.;
Rossetti, M.V.;
Méndez, M.;
Martínez, J.E.;
Enríquez de Salamanca, R.;
del C. Batlle, A.M.;
Parera, V.E.

Publication type:

Article

Bone mineral density and vitamin D levels in erythropoietic protoporphyria.

Published in:

Endocrine (1355008X), 2013, v. 44, n. 3, p. 803, doi. 10.1007/s12020-013-9934-x

By:

Allo, Gonzalo;
del Carmen Garrido-Astray, Maria;
De Salamanca, Rafael Enríquez;
Martínez, Guillermo;
Hawkins, Federico

Publication type:

Article

Erratum to: Bone mineral density and vitamin D levels in erythropoietic protoporphyria.

Published in:

2013

By:

Allo, Gonzalo;
del Carmen Garrido-Astray, Maria;
Méndez, Manuel;
De Salamanca, Rafael Enríquez;
Martínez, Guillermo;
Hawkins, Federico

Publication type:

Correction Notice

Protection from phototoxic injury during laparoscopic surgery in patients with erythropoietic protoporphyria.

Published in:

Videosurgery & Other Miniinvasive Techniques / Wideochirurgia i Inne Techniki Mało Inwazyjne, 2022, v. 17, n. 2, p. 385, doi. 10.5114/wiitm.2022.115003

By:

Pielaciński, Konrad;
Kwasny, Mirosław;
Górski, Wojciech;
Paluszkiewicz, Piotr

Publication type:

Article

Single‐incision laparoscopic partial cecectomy for appendiceal mucocele in a patient with porphyria photosensitivity.

Published in:

2023

By:

Takami, Takuya;
Itatani, Yoshiro;
Shibuya, Rintaro;
Kiyasu, Yoshiyuki;
Kasahara, Keiko;
Nishizaki, Daisuke;
Okamura, Ryosuke;
Okada, Tomoaki;
Nishigori, Tatsuto;
Hoshino, Nobuaki;
Hisamori, Shigeo;
Tsunoda, Shigeru;
Hida, Koya;
Kawada, Kenji;
Obama, Kazutaka

Publication type:

Case Study

Severe aplastic anemia in a patient with erythropoietic protoporphyria successfully treated by avatrombopag.

Published in:

2022

By:

Jiang, Ziming;
Jiang, Xianyong;
Chen, Miao

Publication type:

Letter

A case of late onset erythropoietic protoporphyria associated with myelodysplastic syndrome treated by the combination of beta carotene and azacitidine.

Published in:

2013

By:

Nishikawa, Yoshitaka;
Okuda, Shinya;
Takebayashi, Chiaki;
Tanimoto, Tetsuya;
Kami, Masahiro;
Kobayashi, Kazuhiko

Publication type:

Letter

Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Literature Review.

Published in:

Tohoku Journal of Experimental Medicine, 2023, v. 261, n. 2, p. 117, doi. 10.1620/tjem.2023.J061

By:

Hiroyuki Ogasawara;
Kazuaki Tokodai;
Wataru Nakanishi;
Atsushi Fujio;
Toshiaki Kashiwadate;
Yoshihiro Shono;
Mineto Ohta;
Yuki Ishikawa;
Shigehito Miyagi;
Fumiyoshi Fujishima;
Michiaki Unno;
Takashi Kamei

Publication type:

Article

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 1, p. 27, doi. 10.3390/biom14010027

By:

Yasuda, Makiko;
Lee, Sangmi;
Gan, Lin;
Bergonia, Hector A.;
Desnick, Robert J.;
Phillips, John D.

Publication type:

Article

Therapeutic options for erythropoietic protoporphyria.

Published in:

2000

By:

TODD, D. J.;
MURPHY, G. M.

Publication type:

Letter

Erythropoietic protoporphyria and early onset of cholestasis.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 645

By:

Khalili, Manijeh;
Farahmand, Fatemeh;
Hirbod-Mobarakeh, Armin;
Yousefi, Azizollah;
Sotoudeh, Soheila;
Monajemzadeh, Maryam;
Razaghian, Anahita;
Rezaei, Nima

Publication type:

Article

Porphyrins and the porphyrias.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.16061

By:

Fontanellas, Antonio;
Avila, Matías A.;
Deybach, Jean‐Charles;
Badminton, Michael N.

Publication type:

Article

Liver transplantation and primary liver cancer in porphyria.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.15894

By:

Lissing, Mattias;
Wang, Bruce;
Wahlin, Staffan

Publication type:

Article

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.

Published in:

Liver International, 2025, v. 45, n. 1, p. 1, doi. 10.1111/liv.16027

By:

Minder, Anna‐Elisabeth;
Kluijver, Louisa G.;
Barman‐Aksözen, Jasmin;
Minder, Elisabeth I.;
Langendonk, Janneke G.

Publication type:

Article

German Cohort Observational Study to Investigate the Short‐ and Long‐Term Safety and Clinical Effectiveness of Afamelanotide 16 mg (SCENESSE) in Patients With Erythropoietic Protoporphyria (EPP).

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2025, v. 41, n. 2, p. 1, doi. 10.1111/phpp.13012

By:

Homey, Bernhard;
Schelonke, Kathrin;
Schlegel, Carla Marie;
Bruch‐Gerharz, Daniela;
Weller, Karsten;
Kiefer, Lea;
Stölzel, Ulrich;
Staubach‐Renz, Petra;
Wegner, Joanna;
Keller‐Melchior, Regine;
Walker, Gillian;
Bochno, Malgorzata;
Bilbao, Pilar

Publication type:

Article

Fibrosis assessment using transient elastography identifies obesity as a risk factor for hepatic fibrosis in erythropoietic protoporphyria.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2023, v. 39, n. 4, p. 400, doi. 10.1111/phpp.12843

By:

Tavabie, Oliver D.;
Fassihi, Hiva;
Fityan, Adam;
Arujuna, Nisha;
Naik, Harsha;
Ferguson, John;
Aluvihare, Varuna;
Sarkany, Robert

Publication type:

Article

Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2022, v. 38, n. 2, p. 141, doi. 10.1111/phpp.12727

By:

Genovese, Giovanni;
Maronese, Carlo Alberto;
Moltrasio, Chiara;
Piccinno, Roberta;
Marletta, Dario Antonio;
De Luca, Giacomo;
Graziadei, Giovanna;
Granata, Francesca;
Di Pierro, Elena;
Cappellini, Maria Domenica;
Marzano, Angelo Valerio

Publication type:

Article

Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2022, v. 38, n. 1, p. 86, doi. 10.1111/phpp.12720

By:

Serra‐García, Laura;
Morgado‐Carrasco, Daniel;
Pérez‐Valencia, Amanda Isabel;
Castaño‐Díez, Sandra;
Alamon‐Reig, Francesc;
Badenas, Cèlia;
To‐Figueras, Jordi;
Aguilera, Paula

Publication type:

Article