My goal is to reach as precise a diagnosis as possible, so that each child can receive the best current and emerging treatments.
Where I see patients (5)
Selected research
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Andersen-Tawil syndrome.
Handbook of clinical neurology
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Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
Pediatric clinics of North America
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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
Nature communications
Clinical trials
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
Recruiting
More about this studySafety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
Recruiting
More about this studyNatural History Study of Patients With Canavan Disease (CANinform Study)
To enhance the understanding of the natural history of Canavan disease through retrospective data collection from patient medical records and prospective data collection from living patients, including: phenotypic characteristics ...
Recruiting
More about this studyContact me
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