No abstract available
Keywords:
ACMG; American College of Medical Genetics; NGS; Next-generation sequencing; PCR; PKU; Phenylketonuria; Polymerase chain reaction; VLCAD; VUS; Variants of unknown significance; Very long chain acyl-CoA dehydrogenase; WES; WGS; Whole exome sequencing; Whole genome sequencing.
Publication types
-
Research Support, N.I.H., Extramural
-
Review
MeSH terms
-
Brain Diseases, Metabolic, Inborn* / diagnosis
-
Brain Diseases, Metabolic, Inborn* / epidemiology
-
Brain Diseases, Metabolic, Inborn* / genetics
-
Genetic Techniques*
-
Genomics / methods*
-
Global Health
-
Humans
-
Incidence
-
Infant, Newborn
-
Neonatal Screening / methods*