Results 21 to 30 of about 7,531,846 (135)

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

The Application of Clinical Genetics, 2016
Ashley M Lane,1 Jerome T McKay,2 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology; 2Department of Microbiology and Immunology, Wake Forest University School of Medicine, Winston-Salem, NC, USAAbstract ...
Lane AM, McKay JT, Bonkovsky HL
doaj   +1 more source

Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria. [PDF]

Hepatol Commun
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by the accumulation of protoporphyrin in the marrow, erythrocytes, plasma, skin, and liver, and present clinically with painful cutaneous phototoxicity.
Levy C, Naik H, Overbey J, Hedstrom K, Wang K, McDonough C, Freeman M, Keel SB, Erwin AL, Dickey AK, Leaf RK, Quigley J, Mazepa M, Wang B, Phillips J, Parker C, McGuire B, Kazamel M, Bonkovsky H, Rudnick S, Anderson KE, Moghe A, Thapar M, Saberi B, Wheeden K, Desnick R, Balwani M, Porphyrias Consortium of the Rare Diseases Clinical Research Network.   +27 more
europepmc   +3 more sources

A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria. [PDF]

Pediatrics
Protoporphyria is a subtype of porphyria characterized primarily by painful phototoxic skin reactions after light exposure at specific wavelengths. Historically, phototherapy is not contraindicated in patients with protoporphyria since there have not been any reports of phototoxic reactions.
Sandgren JA, Tung ML, Berrebi KG, Saade DN, Bermick JR, Lee SS, Stanford AH.   +6 more
europepmc   +3 more sources

Supplemental figures for "Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria"

, 2022
Supplemental Figures for "Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria" published in the Journal of the American Academy of ...
Dickey, Amy, Dickey, A (via Mendeley Data)   +1 more
core   +2 more sources

Burden of illness and unmet needs in patients with erythropoietic protoporphyria and X-linked protoporphyria: A large US nationwide claims analysis. [PDF]

J Manag Care Spec Pharm
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders caused by the accumulation of the toxic metabolite protoporphyrin IX, which results in painful phototoxicity upon sunlight exposure. Despite their significant impact on quality of life and potential for serious complications, treatment options for EPP/XLP ...
DerSarkissian M, Norregaard C, Romdhani H, Muthukumar A, Bobbili P, Chin M, Liu W, Trinh L.   +7 more
europepmc   +4 more sources

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study. [PDF]

Br J Haematol
British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Schulenburg-Brand D, Peek R, Bentley L, Swingler R, Pavlova YT, Dawe RS, McGuire VA.   +6 more
europepmc   +2 more sources

Absorption, metabolism, and excretion of [14C]dersimelagon, an investigational oral selective melanocortin 1 receptor agonist, in preclinical species and healthy volunteers

Pharmacology Research & Perspectives, 2023
Dersimelagon (formerly MT‐7117) is a novel, orally administered nonpeptide small molecule selective agonist for melanocortin 1 receptor currently being investigated for the treatment of erythropoietic protoporphyria, X‐linked protoporphyria, and diffuse ...
Minoru Tsuda, Kei Ogawa, Tadashi Endou, Takahiro Goto, Yuko Ogasawara, Akihito Ogasawara   +5 more
doaj   +1 more source

Editorial: Ironome: a still untapped frontier [PDF]

Frontiers in Molecular Biosciences
Gloria C. Ferreira, Gloria C. Ferreira, Gloria C. Ferreira, Vladimir N. Uversky, Vladimir N. Uversky, Zoubida Karim   +5 more
doaj   +2 more sources

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review [PDF]

Hemasphere
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Makis A, Saougou I, Hatzimichael E.
europepmc   +2 more sources

Quality of life correlations in patients with Erythropoietic Protoporphyria and X-Linked Protoporphyria on Afamelanotide: A retrospective cohort study - Supplemental Figure 1

, 2022
Investigating the impact of therapeutic response to afamelanotide on quality of life in patients with erythropoietic protoporphyria and x-linked protoporphyria.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE.
Ceresnie, M (via Mendeley Data), Ceresnie, Marissa   +1 more
core   +1 more source