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
Smell the roses