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Erythropoietic Protoporphyria - StatPearls - NCBI Bookshelf
Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease . It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.
www.ncbi.nlm.nih.gov
www.ncbi.nlm.nih.gov
Erythropoietic protoporphyria - Wikipedia
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency ...
en.wikipedia.org
en.wikipedia.org
Erythropoietic Protoporphyria and X-Linked Porphyria
Erythropoietic Protoporphyria (EPP) & X-Linked Protoporphyria (XLP), collectively known as the protoporphyrias, are characterized by severe pain in the skin.
www.porphyria.org
www.porphyria.org
erythropoietic
eˌrythropoiˈetic, a. [f. erythro- + poietic a.] Of or pertaining to the production of erythrocytes.1908 Practitioner Apr. 457 The bone-marrow of dogs which have developed a polycythaemia from being kept at high altitudes, has been..found to give abundant evidence of increased erythropoietic activity...
Oxford English Dictionary
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Congenital Erythropoietic Porphyria - Symptoms, Causes, Treatment
Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III ...
rarediseases.org
rarediseases.org
Congenital Erythropoietic Porphyria (CEP)
CEP is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS).
porphyriafoundation.org
porphyriafoundation.org
Erythropoietic protoporphyria
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. History
Erythropoietic protoporphyria was first described in 1953 by Kosenow and Treibs and completed in 1960 by Magnus et al. at the St John's Institute
wikipedia.org
en.wikipedia.org
Erythropoietic protoporphyria and X-linked protoporphyria - UpToDate
INTRODUCTION. Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by painful, ...
www.uptodate.com
www.uptodate.com
Erythropoietic protoporphyrias: Pathogenesis, diagnosis and ...
The erythropoietic protoporphyrias consist of three ultra-rare genetic disorders of the erythroid heme biosynthesis.
pubmed.ncbi.nlm.nih.gov
pubmed.ncbi.nlm.nih.gov
Autosomal erythropoietic protoporphyria - Orphanet
A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with ...
www.orpha.net
www.orpha.net
Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria ...
Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally ...
porphyriafoundation.org
porphyriafoundation.org
Erythropoietic porphyria
Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells. Erythropoietic protoporphyria (EPP) has similar symptoms as X-linked dominant erythropoietic protoporphyria but the mutation occurs as a loss-of-function
wikipedia.org
en.wikipedia.org
erythropoietin
eˌrythroˈpoietin [f. erythropoietic a. + -in1.] A protein formed in the kidney that stimulates the formation of red blood cells (erythropoiesis).1948 Acta Physiol. Scand. XVI. 152 Our present knowledge of the formation of erythropoietins and their role in anoxic conditions is limited. 1958 Nature 31...
Oxford English Dictionary
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protoporphyrin
protoˈporphyrin Chem. [a. G. protoporphyrin (Fischer & Lindner 1925, in Zeitschr. f. physiol. Chem. CXLII. 147): see proto- and porphyrin.] Any of a group of fifteen isomeric porphyrins, C34H34N4O4, in which the porphin nucleus has four methyl, two vinyl, and two propionic acid substituents; one iso...
Oxford English Dictionary
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