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Office
300 Longwood Ave
Children's Hospital Boston
Boston, MA 02115Phone+1 617-355-4695
Education & Training
University of New South Wales Faculty of MedicineClass of 1977
Certifications & Licensure
MA State Medical License 1995 - 2026- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
Publications & Presentations
PubMed
- Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?Christina L Grant, Jaime López-Valdez, Deborah Marsden, Fatih Ezgü
Molecular Genetics and Metabolism. 2024-03-01 - 4 citationsLong-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.Heather A Lau, David Viskochil, Pranoot Tanpaiboon, Antonio Gonzalez-Meneses Lopez, Esmeralda Martins
Molecular Genetics and Metabolism. 2022-05-01 - 37 citationsImpact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.Deborah Marsden, Camille L. Bedrosian, Jerry Vockley
Genetics in Medicine. 2021-01-25
Press Mentions
Amicus’ Pompe Trial Not Expected to Prove Superior to Sanofi’s LumizymeJanuary 28th, 2019
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