Page last updated: 2024-10-16

carbamates and Carbamoyl-Phosphate Synthase I Deficiency Disease

carbamates has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 1 studies

Carbamoyl-Phosphate Synthase I Deficiency Disease: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

Research

Studies (1)

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

Authors

AuthorsStudies
Yefimenko, I1
Fresquet, V1
Marco-MarĂ­n, C1
Rubio, V1
Cervera, J1

Other Studies

1 other study available for carbamates and Carbamoyl-Phosphate Synthase I Deficiency Disease

ArticleYear
Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.
    Journal of molecular biology, 2005, May-27, Volume: 349, Issue:1

    Topics: Adenosine Triphosphate; Allosteric Regulation; Amino Acid Substitution; Bicarbonates; Carbamates; Ca

2005