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Journal List > J Neurol Neurosurg Psychiatry > v.33(6); Dec 1970

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J Neurol Neurosurg Psychiatry. 1970 December; 33(6): 817–823.
PMCID: PMC493598
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Refsum's syndrome: report of three cases
C. D. Quinlan and E. A. Martin
Adelaide Hospital, Dublin
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Abstract
The case-reports of three cases of Refsum's syndrome are presented, and the underlying metabolic abnormality discussed. The effect of treatment with a low-phytanic acid diet in one case is described.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Alexander WS. Phytanic acid in Refsum's syndrome. J Neurol Neurosurg Psychiatry. 1966 Oct;29(5):412–416. [PMC free article] [PubMed]
  • ASHENHURST EM, MILLAR JH, MILLIKEN TG. Refsum's syndrome affecting a brother and two sisters. Br Med J. 1958 Aug 16;2(5093):415–417. [PMC free article] [PubMed]
  • Avigan J. The presence of phytanic acid in normal human and animal plasma. Biochim Biophys Acta. 1966 Apr 4;116(2):391–394. [PubMed]
  • CAMMERMEYER J. Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J Neuropathol Exp Neurol. 1956 Jul;15(3):340–361. [PubMed]
  • Campbell AM, Williams ER. Natural history of Refsum's syndrome in a Gloucestershire family. Br Med J. 1967 Sep 23;3(5568):777–779. [PMC free article] [PubMed]
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  • Eldjarn L, Try K, Stokke O, Munthe-Kaas AW, Refsum S, Steinberg D, Avigan J, Mize C. Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet. 1966 Mar 26;1(7439):691–693. [PubMed]
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  • Herndon JH, Jr, Steinberg D, Uhlendorf BW, Fales HM. Refsum's disease: characterization of the enzyme defect in cell culture. J Clin Invest. 1969 Jun;48(6):1017–1032. [PMC free article] [PubMed]
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  • Mize CE, Herndon JH, Jr, Blass JP, Milne GW, Follansbee C, Laudat P, Steinberg D. Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease. J Clin Invest. 1969 Jun;48(6):1033–1040. [PMC free article] [PubMed]
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  • Richterich R, Rosin S, Rossi E. Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid formal genetics. Humangenetik. 1965;1(4):333–336. [PubMed]
  • Richterich R, Moser H, Rossi E. Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid. A review of the clinical findings. Humangenetik. 1965;1(4):322–332. [PubMed]
  • Steinberg D, Avigan J, Mize C, Eldjarn L, Try K, Refsum S. Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis. Biochem Biophys Res Commun. 1965 Jun 9;19(6):783–789. [PubMed]
  • Steinberg D, Vroom FQ, Engel WK, Cammermeyer J, Mize CE, Avigan J. Refsum's disease--a recently characterized lipidosis involving the nervous system. Combined clinical staff conference at the National Institutes of Health. Ann Intern Med. 1967 Feb;66(2):365–395. [PubMed]
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