Francyne Kubaski
Papers
2
Total Citations
60
H-Index
2
About
Francyne Kubaski is a leading researcher in the field of inborn errors of metabolism, with a primary focus on the mucopolysaccharidoses (MPS)—a group of devastating lysosomal storage disorders. Her work centers on the development and application of advanced mass spectrometry techniques for the detection and monitoring of these conditions. Dr. Kubaski’s major contributions include pioneering a novel, automated high-throughput mass spectrometry assay for heparan sulfate, a key biomarker for MPS. This breakthrough, detailed in her highly cited 2014 paper (36 citations), offers a powerful tool for both newborn screening and disease monitoring. Her parallel work on tandem mass spectrometry for MPS diagnosis (24 citations) has further solidified her impact, providing a more efficient and accurate method for identifying affected patients. By enabling earlier diagnosis and more precise tracking of disease progression, Dr. Kubaski’s innovations are directly improving patient outcomes and paving the way for more effective therapeutic interventions in the fight against these rare, debilitating diseases.
Research Focus
Key Achievements
Top Papers
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