Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Marcus J. Miller, Kristina Cusmano‐Ozog, Devin Oglesbee, Sarah P. Young
Topics & Concepts
Newborn screeningMedical geneticsMedicineTandem mass spectrometryPropionic acidemiaChemistryChromatographyPhysiologyBiochemistryInternal medicineMass spectrometryPediatricsGeneMetabolism and Genetic DisordersMitochondrial Function and PathologyDiet and metabolism studies