Titlebook: Clinical Applications of Mass Spectrometry in Biomolecular Analysis; Methods and Protocol Uttam Garg Book 2022Latest edition The Editor(s)

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含沙射影

胆小懦夫

Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism,omponent in the detection of inborn errors of metabolism for six decades. Detection of amino acids using mass spectrometry offers advantages in speed and analytic specificity. Employing methanol extraction and controlled butylation, C8 reversed-phase chromatography, and MS/MS detection, 32 amino aci

FUME

Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Ta in the body. Deficiency in branched-chain ketoacid dehydrogenase complex, an enzyme required for metabolism of those amino acids, will lead to elevation and accumulation of BCAA and ketoacids in bodily fluids. This results in maple syrup urine disease (MSUD), a condition estimated to affect 1 in 10

Airtight

Quantitation of Butyrylcarnitine, Isobutyrylcarnitine, and Glutarylcarnitine in Urine Using Ultra-Pation disorders, specific acylcarnitine species accumulate in a pattern that is characteristic for each disease. For this reason, acylcarnitine analysis is widely used for screening and diagnosis of inherited disorders of metabolism. The most common method for acylcarnitine analysis uses flow inject