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Refsum's disease - Wikipedia, the free encyclopedia
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Refsum's disease (hereditary motor and sensory neuropathy type IV) is a rare autosomal recessive condition first characterized by Sigvald Refsum in 1945. He initially chose the name heredoataxia hemeralopica polyneuritiformis,1 subsequently amending this to heredopathia atactica polyneuritiformis.2 Thankfully,
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Welcome to the Infantile Refsum Disease website. ... We, John Harris and Mary Stephens, are the parents of a wonderful little boy named Ian who is diagnosed with infantile Refsum disease (IRD). Ian was born in March of 1993. We live in Vancouver, Washington, USA, a small city just north of Portland, Oregon.
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Refsum's disease: A rare disorder characterized by phytanic acid accumulation in the blood and tissues. Also known as: Refsum's syndrome,Refsum-Thiébaut disease,Refsum-Thiébaut syndrome,Refsum-Thiébaut-Klenk-Kahlke disease. ... Refsum, who observed it in five members of two unrelated Norwegian families,
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Overview: Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity ... ... Refsum first described this disease in 1946.
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Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done. ... Yahoo! Group - Refsum Disease Support Network - E-mail based discussion group for people with this disorder and their families for sharing experiences, coping strategies and dietary tips.
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The case-reports of three cases of Refsum's syndrome are presented, and the underlying metabolic abnormality discussed. The effect of treatment with a ...
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Articles by Refsum, H. ... A. Vogiatzoglou, A D. Smith, E. Nurk, P. Berstad, C. A Drevon, P. M Ueland, S. E Vollset, G. S Tell, and H. Refsum; Dietary sources of vitamin B-12 and their association with plasma vitamin B-12 concentrations in the general population: the Hordaland Homocysteine Study;
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Climb - The National Information Centre for metabolic Diseases; (see website for contact details); A national umbrella organisation working on behalf of children, ... Refsum Disease ... Rafsum Disease: Patient UK; Refsum Disease factsheet: National Institute for Neurological Disorders and Stroke (US site);
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Host of the; European Referendum; Campaign; Study about constitutional conditions concerning referendums on the EU constitution in the; EU member states by Marian Zdeb, democracy international; June 17, 2004; ... Democratic Legitimation of EU Constitution; The Convention on the Future of Europe ... 48 EU Treaty.
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