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 (6)
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Annals of neurology
Targeted Treatments for Inherited Neuromuscular Diseases of Childhood.
Seminars in neurology
Soothing the soul