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Keyphrases
Accurate Diagnosis
100%
Transaminases
100%
Clinical Screening
100%
2-pyridone
100%
GABA-transaminase
100%
Screening Biomarker
100%
Succinimide
100%
Gaba
100%
Antiseizure Medication
100%
Cerebrospinal Fluid
71%
4-aminobutyrate Transaminase
57%
Elevated Levels
42%
Biochemical Data
28%
Plasma Fluid
28%
Plasma Samples
28%
Metabolomics Data
28%
EDTA Plasma
28%
GABA Metabolism
28%
Whole Exome Sequencing
14%
Pediatric
14%
Intellectual Disability
14%
Patient Demographics
14%
Pathogenicity
14%
Variants of Uncertain Significance
14%
Untargeted
14%
Movement Disorders
14%
Correlation Degree
14%
Patient Samples
14%
Inborn Errors of Metabolism
14%
Amino Acid Analysis
14%
Neurodevelopmental Disorders
14%
Metabotype
14%
Untargeted Metabolomics
14%
Population-based Cohort
14%
Seizure Disorder
14%
Vigabatrin
14%
Severe Developmental Delay
14%
Biochemical Phenotyping
14%
Acylcarnitine Analysis
14%
Homocarnosine
14%
Intellectual Movements
14%
Inherited Neurometabolic Disorders
14%
Neurometabolic Disorders
14%
Organic Acids
14%
Biochemical Profile
14%
Genotyping Technologies
14%
Metabolomic Analysis
14%
Metabolomics Platforms
14%
Death in childhood
14%
Phenotyping Technology
14%
Biochemistry, Genetics and Molecular Biology
Transaminase
100%
Gamma-Aminobutyric Acid
100%
Deficiency
100%
Blood Plasma
46%
Metabolomics
30%
4 Aminobutyric Acid Metabolism
15%
Exome Sequencing
7%
Amino Acids
7%
Intellectual Disability
7%
Genotyping
7%
Inborn Error of Metabolism
7%
Pediatrics
7%