Results 101 to 110 of about 1,952 (187)

Erythropoietic protoporphyria patients in Slovenia.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2007
There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.The patients were selected by routine examination of photosensitive patients and by studying hospital records.
Gorenjak, Maksimiljan, Kansky, Aleksej, Marko, Pij B., Miljković, Jovan, Povalej, Petra   +4 more
openaire   +3 more sources

Erythropoietic protoporphyria clinical and epidemiological aspects

, 2010
Erythropoietic protoporphyria, EPP, is an inherited disease in which the main clinical manifestations are painful cutaneous sensitivity to intense light and liver disease which in some requires liver transplantation for survival.
Staffan Wahlin (2552248)
core  

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

, 2007
Erythropoietic protoporphyria (EPP) results from deficiency of ferrochelatase (FECH). Accumulation of protoporphyrin IX causes life-long acute photosensitivity. Microcytic anemia occurs in 20% to 60% of patients.
Badminton, Michael Norman, Holme, S. Alexander, Elder, George Hill, Worwood, Mark, Anstey, Alexander Vincent   +4 more
core   +1 more source

A case of bovine erythropoietic protoporphyria in a female Limousin calf

Bovine erythropoietic protoporphyria (BCEPP) is a rare genetic disorder predominantly affecting Limousin and, sporadically, Blonde Aquitaine cattle. It arises from diminished or absent ferrochelatase activity, causing the toxic build up of protoporphyrin
Jonsson, Nicholas N., Kaczmarska, Adriana, Gutierrez Quintana, Rodrigo, Viora, Lorenzo, Capuzzello, Giovanni   +4 more
core  

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  

Bitopertin Shows Efficacy in Patients with Erythropoietic Protoporphyria: Results from the Randomized, Double-Blind, Placebo-Controlled AURORA Trial

Erythropoietic protoporphyria is a rare genetic disorder of heme biosynthesis characterized by protoporphyrin-IX accumulation, painful phototoxic reactions, and hepatobiliary disease, for which no disease-modifying therapies are approved.
Bonkovsky, Herbert L., Desnick, Robert, Anderson, Karl E., Dickey, Amy K., Chin, Melanie, Balwani, Manisha, Levy, Cynthia, Thapar, Manish, Savage, Will, Wang, Bruce, Keel, Siobán   +10 more
core   +1 more source

Exacerbation of erythropoietic protoporphyria by hyperthyroidism [PDF]

, 2018
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. The majority of EPP patients present with a clinical symptom of painful phototoxicity.
Minder, Elisabeth, Haldemann, Andreas, Schneider-Yin, Xiaoye   +2 more
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Heme arginate improves acute liver failure secondary to erythropoietic protoporphyria: a case report. [PDF]

Front Med (Lausanne)
Ni H, Chen B, Huang A, Zhang T, Li H, Tang S.   +5 more
europepmc   +1 more source

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source

Key role of Levitt's carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report. [PDF]

World J Clin Cases
Kang LL, Zhang HD.
europepmc   +1 more source