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hydrogen carbonate and Carbamoyl-Phosphate Synthase I Deficiency Disease

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

Bicarbonates: Inorganic salts that contain the -HCO3 radical. They are an important factor in determining the pH of the blood and the concentration of bicarbonate ions is regulated by the kidney. Levels in the blood are an index of the alkali reserve or buffering capacity.
hydrogencarbonate : The carbon oxoanion resulting from the removal of a proton from carbonic acid.

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 hydrogen carbonate 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