Area of research
Surgery · Genetics
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Congenital Anomalies and Fetal Surgery, RNA modifications and cancer, and Cardiac Structural Anomalies and Repair.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
218th ENMC International Workshop:
Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II
Nutritional Practices at a Glance
Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I