Loading...
Header Logo

Please contact mskhan2@childrensnational.org for any questions. Can't find your name in profiles ? Request a Profile

Keywords
Last Name
Institution

Ornithine Carbamoyltransferase Deficiency Disease

"Ornithine Carbamoyltransferase 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.

expand / collapse MeSH information
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)


expand / collapse publications
This graph shows the total number of publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in this website by year, and whether "Ornithine Carbamoyltransferase Deficiency Disease" was a major or minor topic of these publications.
Bar chart showing 43 publications over 16 distinct years, with a maximum of 7 publications in 2008
To see the data from this visualization as text, click here.