Dr. Bianconi is on Doximity
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Office
10 Center Dr
Building 10 Room 9d42
Bethesda, MD 20892Phone+1 301-496-8217
Education & Training
- National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 2008 - 2011
- New York-Presbyterian Brooklyn Methodist HospitalResidency, Pediatrics, 2003 - 2006
- University of Vienna Faculty of MedicineClass of 2003
Certifications & Licensure
- CA State Medical License 2019 - 2025
- NY State Medical License 2006 - 2020
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 214 citationsIntrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trialDaniel S. Ory, Elizabeth A. Ottinger, Nicole Y. Farhat, Kelly A. King, Xuntian Jiang
Lancet. 2017-10-14 - 96 citationsOxidative stress in Niemann-Pick disease, type C.Rao Fu, Nicole M. Yanjanin, Simona Bianconi, William J. Pavan, Forbes D. Porter
Molecular Genetics and Metabolism. 2010-10-01 - 30 citationsPerson Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.Cristan Farmer, Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff
American Journal on Intellectual and Developmental Disabilities. 2020-11-01
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