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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Psychometric properties of the Infantile Neuroaxonal Dystrophy Rating Scale.
Developmental medicine and child neurology
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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Brain : a journal of neurology
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Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Human gene therapy
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 studyStaff superheroes
It’s a bird. It’s a plane. It’s a window washer! Dressed as a superhero to clean and brighten your day.
