0000-0002-0627-4614 Employment
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Publications (14)
- Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program. Save
- Expedited Exome Re-analysis following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder Save
- An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation. Save
- Implementation of a tier system for IVIG indications to address IVIG shortage at a tertiary care pediatric medical center. Save
- Mucopolysaccharidosis type VII (Sly syndrome) - What do we know? Save
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. Save
- Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations. Save
- Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19. Save
- ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Save
- Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. Save