Tag Bryan E. Hainline MD PhD

Medical Genetics and Biochemistry in Diagnosis and Management

Abbreviations CDG congenital disorders of glycosylation CE-ESI-MS capillary electrophoresis–electrospray ionization–mass spectrometry GC-MS gas chromatography–mass spectrometry HPLC high-performance liquid chromatography MALDI matrix-assisted laser desorption/ionization MCAD medium chain acyl-CoA dehydrogenase MS/MS tandem mass spectrometry MSUD maple syrup urine disease mtDNA mitochondrial DNA…