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Disease, Refsum: See Refsum disease.
Disease characteristics. Refsum disease is characterized by anosmia (a universal finding) and early-onset retinitis pigmentosa with variable combinations of neuropathy ...
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
Refsum disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues.
What causes Refsum disease? The peroxisome is responsible for the breakdown of certain branched chain fatty acids. A common branched chain fatty acid, phytanic acid, is ...