Meaning Refsum disease
What does Refsum disease mean? Here you find 4 meanings of the word Refsum disease. You can also add a definition of Refsum disease yourself
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Refsum diseaseA genetic disorder that affects the metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis pigmentosa, and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain. Refsum [..]
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Refsum diseaseAn autosomal recessive familial disorder that usually presents in childhood with Polyneuropathy; Sensorineural Hearing Loss; Ichthyosis; Ataxia; Retinitis Pigmentosa; and Cardiomyopathies. (From Joynt [..]
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Refsum diseaseAn 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; Osteop [..]
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Refsum diseaseAn autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLU [..]
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