Protoporphyria

Common Name(s)

Protoporphyria

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Protoporphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Protoporphyria" returned 105 free, full-text research articles on human participants. First 3 results:

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
 

Author(s): Erica J Fratz, Jerome Clayton, Gregory A Hunter, Sarah Ducamp, Leonid Breydo, Vladimir N Uversky, Jean-Charles Deybach, Laurent Gouya, Hervé Puy, Gloria C Ferreira

Journal: Biochemistry. 2015 Sep;54(36):5617-31.

 

Regulation of 5-aminolevulinate synthase (ALAS) is at the origin of balanced heme production in mammals. Mutations in the C-terminal region of human erythroid-specific ALAS (hALAS2) are associated with X-linked protoporphyria (XLPP), a disease characterized by extreme photosensitivity, ...

Last Updated: 15 Sep 2015

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Afamelanotide for Erythropoietic Protoporphyria.
 

Author(s): Janneke G Langendonk, Manisha Balwani, Karl E Anderson, Herbert L Bonkovsky, Alexander V Anstey, D Montgomery Bissell, Joseph Bloomer, Chris Edwards, Norbert J Neumann, Charles Parker, John D Phillips, Henry W Lim, Iltefat Hamzavi, Jean-Charles Deybach, Raili Kauppinen, Lesley E Rhodes, Jorge Frank, Gillian M Murphy, Francois P J Karstens, Eric J G Sijbrands, Felix W M de Rooij, Mark Lebwohl, Hetanshi Naik, Colin R Goding, J H Paul Wilson, Robert J Desnick

Journal: N. Engl. J. Med.. 2015 Jul;373(1):48-59.

 

Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, ...

Last Updated: 3 Jul 2015

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Experimental protoporphyria: effect of bile acids on liver damage induced by griseofulvin.
 

Author(s): María Del Carmen Martinez, Silvina Fernanda Ruspini, Susana Graciela Afonso, Roberto Meiss, Ana Maria Buzaleh, Alcira Batlle

Journal: Biomed Res Int. 2015 ;2015():436319.

 

The effect of bile acids administration to an experimental mice model of Protoporphyria produced by griseofulvin (Gris) was investigated. The aim was to assess whether porphyrin excretion could be accelerated by bile acids treatment in an attempt to diminish liver damage induced by ...

Last Updated: 6 May 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Protoporphyria" returned 7 free, full-text review articles on human participants. First 3 results:

Liver disease and erythropoietic protoporphyria: a concise review.
 

Author(s): María José Casanova-González, María Trapero-Marugán, E Anthony Jones, Ricardo Moreno-Otero

Journal: World J. Gastroenterol.. 2010 Sep;16(36):4526-31.

 

The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutation of the gene that encodes ...

Last Updated: 21 Sep 2010

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Erythropoietic protoporphyria.
 

Author(s): Mario Lecha, Hervé Puy, Jean-Charles Deybach

Journal:

 

Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between ...

Last Updated: 23 Sep 2009

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Liver disease in erythropoietic protoporphyria: insights and implications for management.
 

Author(s): A V Anstey, R J Hift

Journal: Postgrad Med J. 2007 Dec;83(986):739-48.

 

Last Updated: 6 Dec 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria; EPP; X-Linked Protoporphyria; XLP; XLPP; X-Linked Dominant Erythropoietic Protoporphyria; XLEPP; XLDP

 

Last Updated: 28 Mar 2016

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Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria (EPP)

 

Last Updated: 30 Mar 2016

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Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria

 

Last Updated: 10 Oct 2006

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