Refsum DiseaseSymptoms, Doctors, Treatments, Advances & More
Refsum Disease Overview
Learn About Refsum Disease
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Ronald Wanders practices practicing medicine in Amsterdam, Netherlands. Mr. Wanders is rated as an Elite expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Infantile Refsum Disease.
CUIMC/Edward S. Harkness Eye Institute
Tarun Sharma is an Ophthalmologist practicing medicine in New York, New York. Dr. Sharma is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Diabetic Retinopathy, Late-Onset Retinal Degeneration, X-Linked Juvenile Retinoschisis, Vitrectomy, and Trabeculectomy. Dr. Sharma is currently accepting new patients.
Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...
Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...