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Porphyria, Erythropoietic

"Porphyria, Erythropoietic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.


This graph shows the total number of publications written about "Porphyria, Erythropoietic" by people in Harvard Catalyst Profiles by year, and whether "Porphyria, Erythropoietic" was a major or minor topic of these publication.
Bar chart showing 5 publications over 5 distinct years, with a maximum of 1 publications in 2006 and 2009 and 2011 and 2013 and 2017
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.