Michele Spencer-Manzon, MD

Assistant Professor of Genetics

Departments & Organizations

Genetics: Genetics Consultation Service


Research Interests

Enzyme replacement therapy for inborn errors of metabolism. Novel therapies for inborn errors of metabolism. Developmental dyspraxia and Neurodevelopmental Disorders. Quality improvement of clinical care for patients with genetic disorders. more...


Education

  • M.D., University of Massachusetts, 2004

Selected Publications

  • SK. Reddy, SL. Austin, M Spencer-Manzon, DD. Koeberl, BM. Clary, DM. Desai, AD.Smith and PS. Kishnani; Liver transplantation for glycogen storage disease type Ia; Journal of Hepatology, Volume 51, Issue 3, September 2009, Pages 483-490
  • PK. Puri, MD; DM. Reddi, MD; MJ Spencer—Manzon, K Deak, SU. Steele, M Mikati; Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. Archives of Dermatology; 2011 Sep 19.
  • SL Austin, AD Proia, MJ Spencer-Manzon, J Butany, SB Wechsler, and PS Kishnani; Cardiac Pathology in Glycogen Storage Disease Type III; Journal of Inherited Metabolic Disorders.

more...

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