Children's Hospital of Philadelphia, Completed Research, Dr. Levine, Dr. Sochett, Drug, Metabolic Disorder, Mid-Atlantic, Pediatric, Rare Disease, The Hospital for Sick Children
Repurposing an Antibiotic to Treat a Defect in Vitamin D Metabolism Principal Investigator: Dr. Michael Levine, Dr. Étienne Sochett Disease: CYP24A1 mutations, hypercalcemia, hypercalciuria Research Description: Patients with loss of function mutations in the CYP24A1...
Dr. Bönnemann, Dr. Dowling, Drug, Muscular Disorder, National Institutes of Health, Pediatric, Rare Disease, The Hospital for Sick Children
Repurposing a Cancer Drug to Treat a Rare Disease Principal Investigator: Dr. James Dowling and Dr. Carsten Bönnemann Disease: Myotubular Myopathy Research Description: X-linked myotubular myopathy (MTM) is a rare disorder that affects males and is caused by mutations...
