Claudia Cozma
Papers
1
Total Citations
11
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1
About
Claudia Cozma is a leading researcher in the field of lysosomal storage diseases (LSDs), with a particular focus on developing rapid, high-throughput diagnostic tools. Her work centers on advancing mass spectrometry-based methodologies to improve the detection and monitoring of conditions like Fabry disease, a serious genetic disorder caused by deficient α-galactosidase A activity. Cozma’s most cited study, “Testing the feasibility of fully automated chip‐based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease” (2013, 11 citations), demonstrates her pioneering approach. In this work, she validated a novel diagnostic technique using dried blood spots (DBS) and a chemical substrate to quantify enzyme activity, offering a faster, more automated alternative to traditional methods. This contribution is significant for enabling earlier, more accessible screening for Fabry disease, potentially improving patient outcomes. Cozma’s research bridges analytical chemistry and clinical diagnostics, showcasing her impact in translating innovative technologies into practical medical solutions. Her work continues to influence the development of next-generation diagnostic platforms for rare genetic disorders.
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