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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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
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A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Annals of neurology
Clinical trials
Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
Recruiting
More about this studyContact me
Fetal surgery firsts
The first open fetal surgery in the world was performed at UCSF in the early 1980s.
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