Results 111 to 120 of about 7,531,846 (135)

PCR11 Understanding the Patient Experience of Erythropoietic Protoporphyria and X-Linked Protoporphyria: A Qualitative Study

Value in Health, 2022
D Whalley, K Belongie, T Frangiosa, H Krasa, DM Mladsi, J Twiss, S Wolowacz   +6 more
openaire   +1 more source

Homeostasis of Iron and Hepcidin in Erythropoietic Protoporphyria and X-Linked Protoporphyria

American Journal of Gastroenterology, 2014
Krista Bossi, Jingyun Lee, Paul Schmeltzer, Gale Groseclose, Siddesh Besur, Sunil Hwang, Herbert Bonkovsky   +6 more
openaire   +1 more source

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

Clinical and Experimental Dermatology
Erythropoietic protoporphyria (EPP) is usually caused by autosomal dominant mutations FECH, blocking the conversion of protoporphyrin to haem. The resulting accumulation of protoporphyrin causes itching, burning and erythema after sun exposure, with facial scarring and, sometimes, liver damage.
Sahana M Srinivas, Celia Moss
openaire   +2 more sources

C-terminal deletion in the ALAS2 gene and X-linked dominant protoporphyria

2009
We examined the gene expression profiles of two independent cohorts of patients with acute myeloid leukemia [n=247 and n=214 (younger than or equal to 60 years)] to study the applicability of gene expression profiling as a single assay in prediction of acute myeloid leukemia-specific molecular subtypes.
V. Brancaleoni, E. Di Pierro, D. Tavazzi, C. Cesaretti, M.D. Cappellini   +4 more
openaire   +3 more sources

Association of quality of life measures with afamelanotide treatment in patients with erythropoietic protoporphyria and x-linked protoporphyria: A retrospective cohort study

Journal of the American Academy of Dermatology, 2023
Marissa S, Ceresnie, Lindsey, Mohney, Dayoung, Ko, Henry W, Lim, Tasneem F, Mohammad   +4 more
openaire   +2 more sources

Erythropoietic Protoporphyria and X-Linked Dominant Protoporphyria

2013
Xiaoye Schneider-Yin, Elisabeth I. Minder   +1 more
openaire   +1 more source

Variability in Erythrocyte and Plasma Porphyrin Levels in Erythropoietic Protoporphyria and X-Linked Protoporphyria

American Journal of Gastroenterology, 2014
Eric Gou, John Phillips, Manisha Balwani, Montgomery Bissell, Joseph Bloomer, Herbert Bonkovsky, Robert Desnick, Hetanshi Naik, Karl Anderson   +8 more
openaire   +1 more source

EE522 Healthcare Resource Use and Costs Among Patients with Erythropoietic Protoporphyria and X-Linked Protoporphyria in the United States

Value in Health, 2023
K. Houghton, A. Hitchens, M. Ciepielewska   +2 more
openaire   +1 more source

Does C-terminal deletion in the ALAS2 gene cause x-linked dominant or recessive protoporphyria?

2012
Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immune defects and predisposition to malignancies. A-T is caused by biallelic inactivation of the ATM gene, in most cases by frameshift or nonsense mutations.
V. Brancaleoni, E. Di Pierro, F. Granata, M.D. Cappellini, E. Di Pierro   +4 more
openaire   +1 more source

X‐linked dominant protoporphyria: response to “Cutaneous porphyrias part 1”

International Journal of Dermatology, 2014
Alexa R, Shipman, Kate E, Shipman
openaire   +2 more sources