Beth L Thurberg MD PhD
Anatomic Pathology, Clinical Pathology
Vice President of Pathology
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Genzyme CorporationOne Mountain RoadFramingham, MA 01701
Phone+1 508-271-2739
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Education & Training
Mass General Brigham/Brigham and Women's HospitalResidency, Pathology-Anatomic and Clinical, 1996 - 1999
University of Chicago Division of the Biological Sciences The Pritzker School of MedicineClass of 1996
Certifications & Licensure
MA State Medical License 1999 - 2026
American Board of Pathology Anatomic Pathology
Publications & Presentations
PubMed
- A novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease.Bryce D Holt, Samuel J Elliott, Rebecca Meyer, Daniela Reyes, Karyn O'Neil
Molecular Therapy. 2025-01-08 - Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individu...Pramod K Mistry, David Cassiman, Simon A Jones, Robin Lachmann, Elena Lukina
Hepatology Communications. 2025-01-01 - 2 citationsThe impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency.Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L Thurberg, Lisa Underhill
Genetics in Medicine Open. 2024-01-01
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