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Office
1000 W Carson St
Box 468
Torrance, CA 90502Phone+1 424-306-7610
Education & Training
Los Angeles County-Harbor-UCLA Medical CenterFellowship, Child Neurology, 2004 - 2007- Los Angeles County-Harbor-UCLA Medical CenterResidency, Pediatrics, 2001 - 2004
Boston University School of MedicineClass of 2001
Certifications & Licensure
CA State Medical License 2002 - 2026- American Board of Pediatrics Pediatrics
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Start of enrollment: 2009 Jun 01
- A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy Start of enrollment: 2019 May 13
Publications & Presentations
PubMed
- 42 citationsIRF2BPL Is Associated with Neurological Phenotypes.Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld
American Journal of Human Genetics. 2018-09-06 - 40 citationsDe novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.F. Tran Mau-Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom
Genetics in Medicine. 2019-04-01 - 67 citationsReplacing the Enzyme α-l-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type IAshley D. Dierenfeld, Michael F. McEntee, Carole Vogler, Charles H. Vite, Agnes Chen
Science Translational Medicine. 2010-12-01
Professional Memberships
- Member
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