44 top medical experts on Infantile Refsum Disease across 6 countries and 4 U.S. states, including 3 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Infantile Refsum Disease: An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of refsum disease. Features include mental retardation; sensorineural hearing loss; osteoporosis; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of peroxisomes.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Inborn Metabolic Brain Diseases (1,358), Peroxisomal Disorders (437).
- Clinical Trials : at least 3 including 1 Completed, 1 Recruiting
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