Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.
|
27551784 |
2016 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Activity and polymorphisms of butyrylcholinesterase in a Polish population.
|
27109752 |
2016 |
Butyrylcholinesterase deficiency
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses.
|
25448037 |
2015 |
Butyrylcholinesterase deficiency
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses.
|
25448037 |
2015 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses.
|
25448037 |
2015 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
|
25054547 |
2014 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
|
25054547 |
2014 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivarcurium) in patients who have mutations in the BCHE gene.
|
25264279 |
2014 |
Butyrylcholinesterase deficiency
|
0.720 |
Biomarker
|
disease |
CTD_human |
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
|
25054547 |
2014 |
Butyrylcholinesterase deficiency
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
|
25054547 |
2014 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
An Indian butyrylcholinesterase variant L307P is not structurally stable: a molecular dynamics simulation study.
|
23123771 |
2013 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
A patient with prolonged paralysis.
|
22378569 |
2012 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.
|
21228368 |
2011 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine.
|
21637541 |
2011 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy.
|
21029050 |
2011 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Prolonged apnea during electroconvulsive therapy in monozygotic twins: case reports.
|
22053728 |
2011 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences.
|
20879632 |
2010 |
Butyrylcholinesterase deficiency
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Rapid and accurate detection of atypical and Kalow variants in the butyrylcholinesterase gene using denaturing high performance liquid chromatography.
|
18165570 |
2008 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.
|
18300943 |
2008 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.
|
18300943 |
2008 |
Butyrylcholinesterase deficiency
|
0.720 |
Biomarker
|
disease |
BEFREE |
The butyrylcholinesterase knockout mouse as a model for human butyrylcholinesterase deficiency.
|
18056867 |
2008 |
Butyrylcholinesterase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.
|
17700357 |
2007 |
Butyrylcholinesterase deficiency
|
0.720 |
Biomarker
|
disease |
BEFREE |
Sensitivity of butyrylcholinesterase knockout mice to (--)-huperzine A and donepezil suggests humans with butyrylcholinesterase deficiency may not tolerate these Alzheimer's disease drugs and indicates butyrylcholinesterase function in neurotransmission.
|
17194517 |
2007 |
Butyrylcholinesterase deficiency
|
0.720 |
Biomarker
|
disease |
CTD_human |
Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.
|
18075469 |
2007 |