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Refsum's disease - Wikipedia, the free encyclopedia (Search Map)

Refsum's disease is caused by faulty enzymes during the alpha-oxidation of ... Zellweger syndrome - Adrenoleukodystrophy (Adrenomyeloneuropathy) - Refsum's disease ...


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Refsum Disease Information Page: National Institute of Neurological ... (Search Map)

Refsum disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ... What is Refsum Disease? Is there any ...


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Refsum's disease: Definition from Answers.com (Search Map)

Refsum's disease ( ′refsəmz di′zēz ) ( medicine ) A familial disorder characterized by visual disturbances, ataxia, neuritic changes, and cardiac


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REFSUM'S DISEASE (Search Map)

Other eye pathology can occur in Refsum's Disease. ... Refsum's disease is not a common condition and therefore the chance of a patient ...


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Refsum - United Leukodystrophy Foundation (Search Map)

United Leukodystrophy Foundation: The leukodystrophies are genetically determined progressive disorders that affect ... Patients with Refsum disease do not ...


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Refsum's Disease (Search Map)

Refsum's disease is a neurological syndrome characterized by adult-onset ... Patients affected with Refsum disease (RD) have elevated levels of phytanic acid ...


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Refsum Disease -- GeneReviews -- NCBI Bookshelf (Search Map)

The diagnosis of Refsum disease is suspected by clinical findings and ... Fewer than 10% of individuals with Refsum disease have a deficiency of the PTS2 ...


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Refsum disease (Search Map)

Genes and Disease provides an introduction to the relationship between genetic ... Refsum disease is characterized by an accumulation of phytanic acid in the ...


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Refsum's disease -- Wills et al. 94 (8): 403 -- QJM (Search Map)

Refsum's disease (hereditary motor and sensory neuropathy type IV) is a rare ... Refsum's disease is caused by defective alpha oxidation of phytanic acid (3,7,11, ...


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CIGNA - Refsum Disease (Search Map)

An infantile form of Refsum disease exists that usually becomes apparent during ... Refsum disease is inherited as a recessive trait. ...


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