Page last updated: 2024-10-20

thymine and Ornithine Carbamoyltransferase Deficiency Disease

thymine has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 2 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 (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Schmidt, C1
Hofmann, U1
Kohlmüller, D1
Mürdter, T1
Zanger, UM1
Schwab, M1
Hoffmann, GF1
Kidouchi, K1
Nakamura, C1
Katoh, T1
Kibe, T1
Ohba, S1
Wada, Y1

Other Studies

2 other studies available for thymine and Ornithine Carbamoyltransferase Deficiency Disease

ArticleYear
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Adolescent; beta-Alanine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dihydropyri

2005
Automated quantitative analysis for orotidine and uridine/thymine in urine by high-performance liquid chromatography with column switching.
    Advances in experimental medicine and biology, 1991, Volume: 309B

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, High Pressure

1991