Movement Disorders

New LC-MS/MS method simplifies diagnosis of rare lipid disorders

Researchers have developed a simple, rapid, and reliable liquid chromatography tandem mass spectrometry (LC-MS/MS) method for measuring diagnostically important sterols in blood, which can improve the diagnosis and monitoring of rare lipid disorders such as sitosterolemia, Smith-Lemli-Opitz syndrome (SLOS), and cerebrotendinous xanthomatosis (CTX), while being compatible with routine clinical workflows....