flumazenil has been researched along with Galactosemias in 4 studies
Flumazenil: A potent benzodiazepine receptor antagonist. Since it reverses the sedative and other actions of benzodiazepines, it has been suggested as an antidote to benzodiazepine overdoses.
flumazenil : An organic heterotricyclic compound that is 5,6-dihydro-4H-imidazo[1,5-a][1,4]benzodiazepine which is substituted at positions 3, 5, 6, and 8 by ethoxycarbonyl, methyl, oxo, and fluoro groups, respectively. It is used as an antidote to benzodiazepine overdose.
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)
Excerpt | Relevance | Reference |
---|---|---|
"Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life." | 1.31 | The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. ( Angelicheva, D; Austerlitz, F; Balogh, I; Bosshard, N; Briones, P; Corches, A; de Pablo, R; Gata, A; Gitzelmann, R; Heyer, E; Hunter, M; Kalaydjieva, LV; Kalmar, L; László, A; Lupu, C; Nedkova, V; Perez-Lezaun, A; Popa, G; Szalai, C; Tordai, A, 2002) |
"Galactokinase deficiency is an inborn error in the first step of galactose metabolism." | 1.30 | A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). ( Aneva, L; Angelicheva, D; Bosshard, NU; Dye, D; Gitzelmann, R; Hallmayer, J; Jordanova, A; Kalaydjieva, L; Kremensky, I; Markov, A; Nedkova, V; Onengut, S; Perez-Lezaun, A; Radeva, B; Savov, A; Tournev, I; Yanakiev, P, 1999) |
"Half of all Galactosemia cases, Transferase and Kinase, show already at the first examination (2." | 1.26 | [Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]. ( Knoll, E; Scheibenreiter, S; Thalhammer, O; Wehle, E, 1980) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (25.00) | 18.7374 |
1990's | 2 (50.00) | 18.2507 |
2000's | 1 (25.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Thalhammer, O | 1 |
Scheibenreiter, S | 1 |
Knoll, E | 1 |
Wehle, E | 1 |
Kalaydjieva, L | 2 |
Perez-Lezaun, A | 2 |
Angelicheva, D | 2 |
Onengut, S | 1 |
Dye, D | 1 |
Bosshard, NU | 1 |
Jordanova, A | 1 |
Savov, A | 1 |
Yanakiev, P | 1 |
Kremensky, I | 2 |
Radeva, B | 1 |
Hallmayer, J | 1 |
Markov, A | 1 |
Nedkova, V | 2 |
Tournev, I | 1 |
Aneva, L | 1 |
Gitzelmann, R | 2 |
Hunter, M | 1 |
Heyer, E | 1 |
Austerlitz, F | 1 |
Briones, P | 1 |
Gata, A | 1 |
de Pablo, R | 1 |
László, A | 1 |
Bosshard, N | 1 |
Tordai, A | 1 |
Kalmar, L | 1 |
Szalai, C | 1 |
Balogh, I | 1 |
Lupu, C | 1 |
Corches, A | 1 |
Popa, G | 1 |
Kalaydjieva, LV | 1 |
4 other studies available for flumazenil and Galactosemias
Article | Year |
---|---|
[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].
Topics: Austria; Female; Galactokinase; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; M | 1980 |
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Topics: Adolescent; Amino Acid Sequence; Bulgaria; Chromosomes, Human, Pair 17; DNA Primers; Female; Galacto | 1999 |
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Topics: Amino Acid Substitution; Bulgaria; Consanguinity; Europe; Founder Effect; Galactokinase; Galactosemi | 2002 |
Screening for phenylketonuria in a totalitarian state.
Topics: Academies and Institutes; Attitude to Health; Bulgaria; Communism; Comprehension; Galactosemias; Hea | 1992 |