Keyphrases
Severe Cases
100%
Activating mutation
100%
Hyperinsulinism
100%
Glutamate Dehydrogenase
100%
Hemizygous
100%
Heterozygote
37%
IC50
25%
Lymphoblast
25%
Seizure
12%
Glutamate
12%
Neonate
12%
Clinical Phenotype
12%
Novel Combinations
12%
Amino Acids
12%
Severe Hypoglycemia
12%
Insulin Release
12%
Insulin Secretion
12%
2-oxoglutarate
12%
Oxidative Deamination
12%
Hyperammonemia
12%
Hyperinsulinism/hyperammonemia Syndrome
12%
Acid Activation
12%
Truncated Protein
12%
First Day
12%
ATP Production
12%
Mutation Analysis
12%
Novel Frameshift mutation
12%
HEK293 Cells
12%
Glutamate Dehydrogenase Activity
12%
Heterozygous mutation
12%
Dehydrogenase Enzyme Activity
12%
GTP Binding Site
12%
Asymptomatic Pregnant Women
12%
Half Maximal Inhibitory Concentration
12%
GLUD1
12%
GLUD1 Gene
12%
Biochemistry, Genetics and Molecular Biology
Glutamate Dehydrogenase
100%
Guanosine Triphosphate
66%
Wild Type
44%
IC50
33%
Insulin Release
22%
Genetic Carrier
22%
Heterozygote
22%
Lymphoblast
22%
Adenosine Triphosphate
11%
Enzyme
11%
Amino Acids
11%
Binding Site
11%
Oxidoreductase
11%
Enzyme Activity
11%
Oxidative Deamination
11%
Frameshift Mutation
11%
Glutamic Acid
11%
Immunology and Microbiology
Glutamate Dehydrogenase
100%
Wild Type
44%
IC50
33%
Heterozygote
22%
Insulin Release
22%
Lymphoblast
22%
Enzyme Activity
11%
Binding Site
11%
Deamination
11%
Frameshift Mutation
11%
Amino Acid
11%