Learn About Infantile Refsum Disease
- Refsum disease, infantile form
- IRD
- Infantile Refsum disease
- Infantile form of phytanic acid storage disease
Proliance Surgeons
Peter F. Maurice, MD, is a highly specialized otolaryngologist, and fellowship-trained in plastic surgery. He is double board-certified by the American Board of Facial Plastic and Reconstructive Surgery and the American Board of Otolaryngology.Dr. Maurice received his medical degree from Georgetown University, in Washington, DC, where he was elected to membership in the Alpha Omega Alpha Honor Medical Society. He completed his residency in otolaryngology–head and neck surgery at Georgetown University Hospital.Dr. Maurice then was selected for a fellowship in facial plastic and reconstructive surgery. This full-year training program gave him a unique opportunity to study with one of the AAFPRS's master surgeons in Albuquerque, New Mexico.At South Seattle Otolaryngology, patients benefit from a team of on-site audiologists and allergy specialists, in addition to a team of otolaryngologists with over 50 years of combined experience. Dr. Maurice is rated as an Experienced provider by MediFind in the treatment of Infantile Refsum Disease. His top areas of expertise are Chronic Rhinosinusitis with Nasal Polyps (CRSwNP), Nasal Septal Hematoma, Low Nasal Bridge, and Sinusitis.
Prisma Health Internal Medicine Associates Of Greenville
Jai Hwang is a primary care provider, practicing in Internal Medicine in Greenville, South Carolina. Dr. Hwang is rated as an Advanced provider by MediFind in the treatment of Infantile Refsum Disease. His top areas of expertise are Refsum Disease, Infantile Refsum Disease, Infant Hyperglycemia, and High Cholesterol.
Nobuyuki Shimozawa practices in Gifu-shi, Japan. Mr. Shimozawa is rated as a Distinguished expert by MediFind in the treatment of Infantile Refsum Disease. His top areas of expertise are Zellweger Syndrome, Adrenoleukodystrophy (ALD), Addison's Disease, Peroxisomal Acyl-CoA Oxidase Deficiency, and Bone Marrow Transplant.
Summary: This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center