Page last updated: 2024-10-20

thiamine and Carbamoyl-Phosphate Synthase I Deficiency Disease

thiamine has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 2 studies

thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.

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 (2)

TimeframeStudies, this research(%)All Research%
pre-19902 (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
LODI, M1
PLOOG, D1

Other Studies

2 other studies available for thiamine and Carbamoyl-Phosphate Synthase I Deficiency Disease

ArticleYear
The aneurinemia; the aneurine mico and pyruvicemic rate in hypovitaminosis B1 states of hyperglucidic food origin, caused by intense metabolic activity (deficiency edema).
    Zeitschrift fur Vitaminforschung, 1946, Volume: 18, Issue:1-2

    Topics: Blood; Blood Chemical Analysis; Carbamoyl-Phosphate Synthase I Deficiency Disease; Deficiency Diseas

1946
Notification of vitamin B1 and C treatment for trophic disorders of the acre.
    Klinik und Praxis, 1946, Volume: 1, Issue:10

    Topics: Ascorbic Acid; Carbamoyl-Phosphate Synthase I Deficiency Disease; Deficiency Diseases; Disease; Drin

1946