Results 171 to 180 of about 27,170 (181)

EE279 Economic Burden of Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP): A Large United States (US) Nationwide Claims Analysis

Value in Health
Maral DerSarkissian, Chelsea Norregaard, Hela Romdhani, Aruna Muthukumar, Priyanka Bobbili, Melanie Chin, Becca Liu, Huong Ly Trinh, Mei Sheng Duh   +8 more
openaire   +1 more source

SA87 Systematic Literature Review SLR Characterizing Humanistic Disease Burden and Unmet Needs in Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP)

Value in Health
Bhagyashree Oak, Conor Maher, Abigail Silber, Melanie Chin, Maria Hall, Emily Herod, Adaeze Q. Amaefule, Chelsea Norregaard   +7 more
openaire   +1 more source

Identification of a Ferrochelatase Mutation in a Chinese Family With Erythropoietic Protoporphyria

Journal of Hepatology, 2008
Xiao-Fei Kong, Xin-Xin Zhang, Yi-Ming Lu
exaly  

The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study

Journal of Dermatology
Manisha Balwani, Susan D Mathias, Hetanshi Naik   +2 more
exaly  

Homeostasis of Iron and Hepcidin in Erythropoietic Protoporphyria

European Journal of Clinical Investigation, 2015
Herbert L Bonkovsky, Krista Bossi, Sun-Il Hwang   +2 more
exaly  

Erythropoietic Protoporphyria in Sweden: Demographic, Clinical, Biochemical and Genetic Characteristics

Journal of Internal Medicine, 2011
Staffan Wahlin, P Harper, Y Floderus
exaly  

Biliary Fibrosis Associated With Altered Bile Composition in a Mouse Model of Erythropoietic Protoporphyria

Gastroenterology, 1999
Vincent Walter Bloks, Michael Müller, Harry van Goor   +2 more
exaly  

Coexistence of two mutations on a single allele of the ferrochelatase gene (FECH) in erythropoietic protoporphyria (EPP)

2006
E. Di Pierro, V. Brancaleoni, V. Befana, M.D. Cappellini   +3 more
openaire   +1 more source

Faculty Opinions recommendation of Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
openaire   +1 more source

A single base-pair mutation in the SP1 binding site of the ferrochelatase (FECH) promoter may play a role in erythropoietic protoporphyria (EPP)

2002
Cappellini MD, Di Pierro E, Mazzucchelli R, Moriondo V, Mologni D, Bonara P, Riva A   +6 more
openaire   +1 more source