Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Carbamoyl-Phosphate Synthase I Deficiency Disease

"Carbamoyl-Phosphate Synthase I Deficiency Disease" 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.

A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

This graph shows the total number of publications written about "Carbamoyl-Phosphate Synthase I Deficiency Disease" by people in Harvard Catalyst Profiles by year, and whether "Carbamoyl-Phosphate Synthase I Deficiency Disease" was a major or minor topic of these publication.
Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 2001 and 2007 and 2009
To see the data from this visualization as text, click here.
Related Networks
Similar Concepts
Top Journals 
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.