Results 61 to 70 of about 3,099 (193)

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

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 more
doaj   +1 more source

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family [PDF]

, 2018
Summary: Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on the
Mamet, R., Minder, E., Schneider-Yin, X., Schoenfeld, N.   +3 more
core  

Medical progress: Liver transplantation [PDF]

, 1989
Advances in the management of both chronic and acute hepatic disease have been made possible and even mandated by the development of liver transplantation.
Demetris, AJ, Starzl, TE, Van Thiel, DH
core   +1 more source

Erythropoietin signaling regulates heme biosynthesis [PDF]

, 2017
Heme is required for survival of all cells, and in most eukaryotes, is produced through a series of eight enzymatic reactions. Although heme production is critical for many cellular processes, how it is coupled to cellular differentiation is unknown ...
Acin-Perez, Altarejos, Amieux, Amigo, Balwani, Bauer, Beale, Boer, Boer, Burden, Burns, Canver, Carbognin, Chen, Chida, Chung, Chung, Chung, Dailey, Danial, Dar, Decker, Dey, DiPilato, Eggers, Fujiwara, Fujiwara, Ganis, Gidari, Gieger, Goessling, Gough, Grimsrud, Hagiwara, Handschin, Harada, Hebert, Hildick-Smith, Huang, Huang, Humphries, Hunter, Ishikawa, Jing, Kammerer, Kardon, Kirschner, Kuhrt, Langendonk, Lefkimmiatis, Li, Li, Lodish, Maeda, Manni, Mayr, Meier, Najahi-Missaoui, Nilsson, North, Pagliarini, Paradkar, Park, Phillips, Rapaport, Sakaino, Sarma, Schneider, Schooley, Severance, Shah, Shaw, Shirihai, Smith, Socolovsky, Socolovsky, Stratakis, Su, Taylor, Testa, Tingley, Vogel, Wang, Webb, Wegrzyn, Wenger, Whatley, Wingert, Wong, Wu, Yang, Yang, Yien, Zakhary, Zhang, Zhu, Zon   +96 more
core   +2 more sources

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]

, 2019
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK, Chen, L, Lederhandler, M, Meehan, SA, Neimann, A   +4 more
core  

Hepcidin and sports anemia [PDF]

, 2014
Iron is an important mineral element used by the body in a variety of metabolic and physiologic processes. These processes are highly active when the body is undergoing physical exercises. Prevalence of exercise-induced iron deficiency anemia (also known
Guofen Gao, Wei-Na Kong, Yan-Zhong Chang
core   +2 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Photocarcinogenesis of the skin: Current status and future trends

The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 4, April 2025.
Abstract Solar radiation is essential for life on Earth but is also a major contributor to skin carcinogenesis. Solar radiation, particularly ultraviolet (UV) B (280–320 nm) and UVA (320–400 nm), induces photocarcinogenesis via various pathways. UV light can directly cause DNA damage, resulting in genetic mutations if not repaired correctly.
Ting‐Ting Yang, Cheng‐Che E. Lan
wiley   +1 more source

Downregulation of intestinal Farnesoid X Receptor in Erythropoietic protoporphyria [PDF]

, 2017
Erythropoietic protoporphyria (EPP) is characterized by accumulation of protoporphyrin IX (PPIX) in the body. The liver is the major organ responsible for PPIX excretion through the biliary system. Because PPIX is highly hydrophobic, an excess amount of
Pradhan, Komal
core  

Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? [PDF]

, 2019
Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and ...
Angelico, F, Baratta, F, Carluccio, G, Del Ben, M, Ferro, D, Pastori, D, Tozzi, G, Violi, F   +7 more
core   +1 more source