Rare Cholesterol Related Disorders: A Sterolomic Library for Diagnosis and Monitoring of Diseases
Mohsen Ali Asgari, Eylan Yutuc, Jonas Abdel‐Khalik, Peter J. Crick, A. A. M. Morris, Simon Allan Jones, Arunabha Ghosh, Richard Curnock, Claire Hart, Ludger J. Schöls, Silke Matysik, Ιωάννα Λαϊνά, Evan Reid, Thomas T. Warner, Belén González‐Herrero, , Yuqin Wang
The paper introduces a mass spectrometry sterolomic library to aid in diagnosing cholesterol-related inherited disorders by analyzing sterol profiles from 13 autosomal recessive disorders and predicting data for 8 more.
medRxiv · Jun 23, 2025 · PreprintGenetic & Genomic Medicine