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Porphyria, Acute Intermittent

"Porphyria, Acute Intermittent" 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 dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.


This graph shows the total number of publications written about "Porphyria, Acute Intermittent" by people in Harvard Catalyst Profiles by year, and whether "Porphyria, Acute Intermittent" was a major or minor topic of these publication.
Bar chart showing 12 publications over 8 distinct years, with a maximum of 4 publications in 2013
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.