Page last updated: 2024-10-17

cytosine and Ornithine Carbamoyltransferase Deficiency Disease

cytosine 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-19901 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Hata, A1
Setoyama, C1
Shimada, K1
Takeda, E1
Kuroda, Y1
Akaboshi, I1
Matsuda, I1

Other Studies

1 other study available for cytosine and Ornithine Carbamoyltransferase Deficiency Disease

ArticleYear
Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
    American journal of human genetics, 1989, Volume: 45, Issue:1

    Topics: Adolescent; Base Sequence; Blotting, Southern; Cytosine; Exons; Female; Genes; Guanine; Humans; Male

1989