Results 91 to 100 of about 1,952 (187)

Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria

, 1988
We describe a fluorometric assay for heme synthetase, the enzyme that is genetically deficient in erythropoietic protoporphyria. The method, which can readily detect activity in 1 microliter of packed human lymphocytes, is based on the formation of zinc ...
Cox, T M, Norris, P, Nunn, Alistair, Hawk, J L   +3 more
core   +1 more source

Erythropoietic protoporphyria patients in Slovenia

, 2015
Background: 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.
Marko, Pij B., Povalej Bržan, Petra, Kansky, Aleksej, Miljković, Jovan, Gorenjak, Maksimiljan   +4 more
core  

The interrelationship between ferrochelatase and protoporphyrinogen oxidase with particular reference to porphyria variegata and erythropoietic protoporphyria [PDF]

, 1986
This thesis was undertaken to determine if there is any interrelationship between the two terminal enzymes of the haem biosynthetic pathway, protoporphyrinogen oxidase (PPO) and ferrochelatase, with particular reference to porphyria variegata (PV) and ...
Siepker, Lydia, Johanna
core  

Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]

, 2008
Stauch, Thomas, Vogeser, Michael, Mueller, Wilhelm   +2 more
core   +1 more source

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Molecular Medicine, 2013
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function ...
Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network   +13 more
doaj   +1 more source

Late-Onset Erythropoietic Porphyria Caused by a Chromosome 18q Deletion in Erythroid Cells

, 2001
The erythropoietic porphyrias, erythropoietic protoporphyria and congenital erythropoietic porphyria, result from germline mutations in the ferrochelatase gene and uroporphyrinogen III synthase gene, respectively.
Fisher, Paul, Lovell, Christopher R., Singer, Charles, Aplin, Carolyn, Hoy, Terry, Elder, George H., Thompson, Peter, Whatley, Sharon D.   +7 more
core   +1 more source

Application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria and hereditary hemochromatosis

Zhongguo shuxue zazhi
[Objective] To explore the application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria (EPP) and hereditary hemochromatosis (HH).
LIU Haoqiang, ZHAO Caihan, YUAN Qing, XIE Lixia, ZOU Yong, LU Ying   +5 more
doaj   +1 more source

Mouse Model For Protoporphyria. III. Experimental Production of Chronic Erythropoietic Protoporphyria-like Skin Lesions

, 1976
Albino mice were made protoporphyric with griseofulvin according to an established procedure. Photosensitivity flares were elicited once a week throughout a 10-month period, using black light as a source for 410nm radiation and the flares were monitored ...
Gschnait, Fritz, Stingl, Georg, Wolff, Klaus, Konrad, Klaus, Honigsmann, Herbert   +4 more
core   +1 more source

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

, 2010
Background: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene.
Badminton, Michael Norman, Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent, Elder, George H., Whatley, Sharon D.   +5 more
core   +1 more source

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

JAAD Case Reports, 2017
Megumi Mizawa, MD, PhD, Teruhiko Makino, MD, PhD, Fumina Furukawa, MD, Ryotaro Torai, MD, Hajime Nakano, MD, PhD, Daisuke Sawamura, MD, PhD, Tadamichi Shimizu, MD, PhD   +6 more
doaj   +1 more source