Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care
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Presenting Author - Kevin E. Glinton, MD, PHD; Co-Author - Charul Gijavanekar, PhD; Co-Author - Kirt A. Martin, PhD; Co-Author - Theresa A. Wilson, MS, RD; Co-Author - Vernon R. Sutton, MD; Co-Author - Sarah H. Elsea, PhD, FACMG;
Meta Tag
Biochemical genetics
Cognitive Disorders
Genome sequencing
Metabolic Disorder
NextGen Sequencing
Population Genetics
Sequencing
Co-Author Charul Gijavanekar, PhD
Co-Author Kirt A. Martin, PhD
Co-Author Theresa A. Wilson, MS, RD
Co-Author Vernon R. Sutton, MD
Co-Author Sarah H. Elsea, PhD, FACMG
Presenting Author Kevin E. Glinton, MD, PHD
Keywords
sequencing
metabolomic screening
early diagnosis
access to care
disorders of GABA metabolism
GABA neurotransmitter
inhibitory neuronal activity
GABA-T deficiency
SSADH deficiency
newborn screening panels

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