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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

2020Genetics in Medicine52 citationsDOIOpen Access PDF

Topics & Concepts

Newborn screeningMedical geneticsMedicineTandem mass spectrometryPropionic acidemiaChemistryChromatographyPhysiologyBiochemistryInternal medicineMass spectrometryPediatricsGeneMetabolism and Genetic DisordersMitochondrial Function and PathologyDiet and metabolism studies
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