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 studyFeeling at home
From bedside bingo to therapy dogs, we're here to help kids smile and feel more like themselves.
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