n,n-bis(trimethylsilyl)-2,2,2-trifluoroacetamide has been researched along with Galactosemias in 1 studies
*Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) [MeSH]
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (100.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Behúlová, D; Bierhanzl, V; Blaško, J; Čabala, R; Ferenczy, V; Filipiak, W; Hengerics Szabó, A; Kotora, P; Kubinec, R; Podolec, P; Stuchlík, S; Thắng, NM | 1 |
1 other study(ies) available for n,n-bis(trimethylsilyl)-2,2,2-trifluoroacetamide and Galactosemias
Article | Year |
---|---|
Simultaneous analysis of carbohydrates, polyols and amines in urine samples using chemical ionization gas chromatography with tandem mass spectrometry.
Topics: Adult; Algorithms; Amines; Calibration; Carbohydrates; Freezing; Galactosemias; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Limit of Detection; Polymers; Reproducibility of Results; Tandem Mass Spectrometry; Trimethylsilyl Compounds; Urinalysis | 2018 |