Y. Jair

Automated machine learning-Assisted interpretation of GC-MS urinary organic acid profiles by integrating explicit metabolic markers and chromatographic patterns for rare organic acidemias.

Organic acidemias (OAs) are inherited metabolic disorders requiring accurate profiling of urinary organic acids for diagnosis. Although gas chromatography-mass spectrometry (GC-MS) remains a clinical standard, interpretation is challenging because urinary metabolic profiles are complex and heterogeneous, reflecting dis...