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flumazenil and Galactosemias

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)

Research Excerpts

ExcerptRelevanceReference
"Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life."1.31The 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."1.30A 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)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19901 (25.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Thalhammer, O1
Scheibenreiter, S1
Knoll, E1
Wehle, E1
Kalaydjieva, L2
Perez-Lezaun, A2
Angelicheva, D2
Onengut, S1
Dye, D1
Bosshard, NU1
Jordanova, A1
Savov, A1
Yanakiev, P1
Kremensky, I2
Radeva, B1
Hallmayer, J1
Markov, A1
Nedkova, V2
Tournev, I1
Aneva, L1
Gitzelmann, R2
Hunter, M1
Heyer, E1
Austerlitz, F1
Briones, P1
Gata, A1
de Pablo, R1
László, A1
Bosshard, N1
Tordai, A1
Kalmar, L1
Szalai, C1
Balogh, I1
Lupu, C1
Corches, A1
Popa, G1
Kalaydjieva, LV1

Other Studies

4 other studies available for flumazenil and Galactosemias

ArticleYear
[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].
    Klinische Padiatrie, 1980, Volume: 192, Issue:6

    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).
    American journal of human genetics, 1999, Volume: 65, Issue:5

    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.
    Pediatric research, 2002, Volume: 51, Issue:5

    Topics: Amino Acid Substitution; Bulgaria; Consanguinity; Europe; Founder Effect; Galactokinase; Galactosemi

2002
Screening for phenylketonuria in a totalitarian state.
    Journal of medical genetics, 1992, Volume: 29, Issue:9

    Topics: Academies and Institutes; Attitude to Health; Bulgaria; Communism; Comprehension; Galactosemias; Hea

1992