Dr. Tortorelli’s Lysosomal Storage Disorders Research Featured in Clinical Chemistry

Silvia Tortorelli, M.D., Ph.D.
Silvia Tortorelli, M.D., Ph.D.

According to recent research, newborn screening for lysosomal storage disorders has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis.

Silvia Tortorelli, M.D., Ph.D., Consultant in Laboratory Genetics at Mayo Clinic, recently published an article on Mayo's efficient and cost-effective multiplex assay. The assay is used to diagnose lysosomal storage disorders and several peroxisomal disorders in patients presenting with diverse phenotypes at any age.

The article, published in Clinical Chemistry, demonstrates how Mayo's flow injection tandem mass spectrometry approach is amenable to high-throughput population screening for Hurler disease, Gaucher disease, Niemann–Pick A/B disease, Pompe disease, Krabbe disease, Fabry disease, X-adrenoleukodystrophy, and peroxisomal biogenesis disorder in dried blood spot.

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Kelley Schreiber

Kelley Schreiber is a Marketing Channel Manager at Mayo Medical Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her new kitten, and exploring new foods.