Oct 2026
Measurement of galactose-1-phosphate in dried blood spots by LC-MS/MS: method characteristics and therapeutic range.
Galactose-1-phosphate (Gal-1-P) is an important biomarker for diagnosis and therapeutic monitoring of classic galactosemia and related disorders. Measurement is traditionally performed in erythrocytes, requiring relatively large blood volumes and labor-intensive specimen processing. We developed and validated a liquid...
Nicholas A. Kent, Mark T. Bolster, M. J. Schultz et al.
· Molecular Genetics and Metab... · 0 citations