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Keyphrases
Biochemical Characterization
100%
Molecular Characterization
100%
Clinical Characterization
100%
Pyruvate Carboxylase Deficiency
100%
Triheptanoin
100%
PC Deficiency
55%
Health-related Quality of Life
33%
Lactate
33%
Reported Health
22%
Parent Report
22%
Health-related Quality of Life Assessments
22%
Pyruvate Carboxylase
22%
Overall Trend
22%
Gluconeogenesis
11%
Statistical Significance
11%
High Morbidity
11%
High Mortality
11%
Disease Severity
11%
Autosomal Recessive
11%
Amino Acids
11%
Neurological Dysfunction
11%
Blood Lactate
11%
Therapeutic Potential
11%
Health-related Quality of Life Scores
11%
Subunit Interface
11%
Between-subject
11%
Lipogenesis
11%
Quality of Life Improvement
11%
Number of Individuals
11%
Data Limitations
11%
Homotetramer
11%
Energy Deficit
11%
Lactic Acidosis
11%
Overall Scores
11%
Neurometabolic Disorders
11%
Failure to Thrive
11%
Anaplerotic
11%
Quality of Life Tools
11%
Tetramerization
11%
Anaplerosis
11%
Parent-reported Outcomes
11%
Carboxyltransferase
11%
Neurotransmitter Synthesis
11%
Interface Contact
11%
Ketonuria
11%
Genotype Variation
11%
Blood Health
11%
Biochemistry, Genetics and Molecular Biology
Pyruvate Carboxylase
100%
Triheptanoin
100%
Deficiency
100%
Gluconeogenesis
11%
Amino Acids
11%
Lactate Blood Level
11%
Lipogenesis
11%
Autosomal Recessive Inheritance
11%
Genotyping
11%
Neurotransmitter
11%
Homotetramer
11%
Morbidity
11%
Anaplerosis
11%
Neuroscience
Pyruvate Carboxylase
100%
Triheptanoin
100%
Quality of Life
66%
Gluconeogenesis
11%
Amino Acid
11%
Neurotransmitter
11%
Carboxyltransferase
11%