Page last updated: 2024-10-20

pteridines and Ornithine Carbamoyltransferase Deficiency Disease

pteridines has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 1 studies

Ornithine Carbamoyltransferase Deficiency Disease: 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)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Vion-Dury, J1
Salvan, AM1
Confort-Gouny, S1
Cozzone, PJ1

Other Studies

1 other study available for pteridines and Ornithine Carbamoyltransferase Deficiency Disease

ArticleYear
Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies.
    Journal of neuroradiology = Journal de neuroradiologie, 1998, Volume: 25, Issue:4

    Topics: Adipates; Adult; Anatomy, Artistic; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Brain D

1998