Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine.

Barbora Piskláková Jaroslava Friedecká Eliška IvanovováEva HlídkováVojtěch BekárekMatúš PrídavokAleš Kvasnička Tomáš Adam David Friedecký

Published in: Clinical chemistry and laboratory medicine (2023)

The established LC-MS/MS workflow offers a comprehensive analysis of a wide range of organic acids, acylcarnitines and acylglycines in urine to perform effective, rapid and sensitive semi-automated diagnosis of more than 80 IMDs.

Keyphrases

machine learning
deep learning
high throughput
electronic health record
water soluble
single cell