Metabolites
Comprehensive Urinary Bile Acid Profiling in Patients Investigated for Inborn Errors of Bile Acid Synthesis Using LC-MS/MS
Door Bozkurt Obuz U, Demirtaş Güner D, Gümüş E en 5 anderen.
Inhoud in het Engels
Abstract
Background/objectives
This study examined urinary cholanoid profiles in a descriptive case series evaluated for suspected inborn errors of bile acid synthesis (IEBAS) or unexplained cholestasis.
Methods
Urinary excretion of 66 bile acid metabolites was measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS), and concentrations were interpreted as semi-quantitative estimates. In addition, cholesterol, cholestanol, and 7-dehydrocholesterol were analyzed by gas chromatography-mass spectrometry (GC-MS).