Page last updated: 2024-10-18

glycerol and Ornithine Carbamoyltransferase Deficiency Disease

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

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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's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Jiang, Y1
Almannai, M1
Sutton, VR1
Sun, Q1
Elsea, SH1

Other Studies

1 other study available for glycerol and Ornithine Carbamoyltransferase Deficiency Disease

ArticleYear
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
    Molecular genetics and metabolism, 2017, Volume: 122, Issue:3

    Topics: Ammonia; Argininosuccinic Aciduria; Chromatography, Liquid; Female; Glutamine; Glycerol; Humans; Lim

2017