Zywienie w chorobie Refsuma

• Autorzy: Jacorzynski B
• Języki publikacji: PL

Słowa kluczowe

PL

objawy chorobowe; choroby czlowieka; dieta; metabolizm czlowieka; leczenie; kwas fitanowy; choroba Refsuma

• Wydawca: -
• Czasopismo: Żywienie Człowieka i Metabolizm
• Rocznik: 1995
• Tom: 22
• Numer: 3
• Opis fizyczny: s.287-293,tab.,bibliogr.

Twórcy

autor

Jacorzynski B

• Instytut Zywnosci i Zywienia, 02-903 Warszawa, ul.Powsinska 61/63

Bibliografia

• 1. Anonim: Rare genetic syndromes associated with visual and hearing defects. Deaf-Blind Education 1989, July-Dec., 14-17.
• 2. Billimoria J.D., Gibberd F.B., Clemens M.E., et al.: Metabolism of phytanic acid in Refsum's disease. Lancet 1982, 1, 8265, 194.
• 3. Britton T.C., Gibberd F.B.: A family with heredopathia atactica polyneuritiformis (Refsum's disease). J. Royal Soc. Med., 1988, 81, 602.
• 4. Britton T.C., Gibberd F.B., Clemens M.E., et al.: The significance of plasma phytanic acid levels in adults. J. Neurol. Neuros. Psych., 1989, 52, 891.
• 5. Brown P.J., Mei G., Gibberd F.B., et al.: Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease. J. Hum. Nutr. Diet., 1993, 6, 295.
• 6. Budden S.S., Kennaway N.G., Buist N.R, et al.: Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children. J. Pediatr., 1986, 108, 1, 33.
• 7. Coppack S.W., Evans R, Gibberd F.B., et al.: Can patients with Refsum's disease safely eat green vegetables? Brit. Med. J. 1988, 296, 828.
• 8. Dick J.P.R., Gibberd F.B., Meeran K, et al.: Hipokalaemia in acute Refsum's disease. J. Royal Soc. Med., 1993, 86, 171.
• 9. Draye J.-P., Vamecq J., Van Hoof F.: Mammalin metabolism of phytanic acid: recent findings. In: Lipid Storage Disorders. Biological and Medical Aspects. Ed: R. Salvayre. NATO ASI Series, Series A: Life Sciencies 1987, vol 150, p. 419.
• 10. Eldjarn L., Try K, Stokke O., et al.: Dietary effects on serum-phytanic-acid levels and on clinical manifestations in Heredopathia Atactica Polyneuritiformis. Lancet 1966, 1(290), 7439, 691.
• 11. Gibberd F.B., Page N.G.R., Billimoria J.D., et al.: Heredopathia Atactica Polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange. Lancet 1979, 1, 8116, 575.
• 12. Gibberd F.B., Billimoria J.D., Goldman J.M., et al.: Heredopathia atactica polyneuritiformis: Refsum's disease. Acta Neurol. Scand., 1985, 72, 1.
• 13. Gibberd F.B.: Plasma Exchange for Refsum's Disease. Transfus. Sci., 1993, 14, 23.
• 14. Goldman J.M., Clemens M.E., Gibberd F.B., et al.: Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease). Brit. Med. J., 1985, 290, 1109.
• 15. Herndon J.H. Jr., Steinberg D., Uhlendorf B.W., et al.: Refsum's Disease: Characterization of the Enzyme Defect in Cell Culture. J. Clin. Invest., 1969, 48, 1017.
• 16. Kahlke W.: Refsum-Syndrom. - Lipoidchemische Untersuchungen bei 9 Fällen. Klin. Wochenschr., 1964, 42, 20, 1011.
• 17. Kahlke W.: Heredopathia Atactica Polyneuritiformis (Refsum's Disease). In: Lipids and Lipodoses. Ed: G. Schettler. Berlin, Springer-Verlag 1967, 352.
• 18. Kahlke W., Goerlich R., Feist D.: Erhohte Phytansaurespiegel in Plasma und Leber bei einem Kleinkind mit unklarem Hirnschaden. Klin. Wochenschr., 1974, 52, 13, 651.
• 19. Masters-Thomas A., Bailes J., Billimoria J.D., et al.: Heredopathia atactica polyneuritiformis (Refsum's disease). 1.Clinical features and dietary menagement. J. Hum. Nutr., 1980, 34, 245.
• 20. Masters-Thomas A., Bailes J., Billimoria J.D., et al.: Heredopathia Atactica Polyneuritiformis (Refsum's disease). 2.Estimation of phytanic acid in foods. J. Hum. Nutr., 1980, 34, 251.
• 21. Mize C.E., Herndon J.H. Jr., Blass J.P., et al.: Localization of the Oxidative Defect in Phytanic Acid Degradation in Patients with Refsum's Disease. J. Clin. Invest., 1969, 48, 1033.
• 22. Poulos A., Sharp P.: Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease. Neurology 1984, 34, 12, 1606.
• 23. Ramsay B.C., Woodrow D., Cream J.J., et al.: Cutaneous aspects of Refsum's disease. J. Royal Soc. Med., 1991, 84, 559.
• 24. Ratnayake W.M.N., Olsson B., Ackman R.G.: Novel Branched-Chain Fatty Acids in Certain Fish Oil. Lipids 1989, 24, 7, 630.
• 25. Refsum S.: Heredopathia Atactica Polyneuritiformis. J. Nerv. Ment. Dis., 1952, 116, 1046.
• 26. Schmitz G.: Pathophysiologic des zellulären und plasmatischen Lipidstoffwechsels bei erblicher Netzhautdegeneration unter besonderer Berücksichtigung der Abetalipoproteinämie. In: Retinitis-Pigmentosa-Forschung in Deutschland (Programme - Projekte - Perspektiven). DRPV, Bad Nauheim/Bonn 1993, p. 73.
• 27. Steinberg D., Herndorn J.H. Jr, Uhlendorf B.W., et al.: Refsum's Disease: Nature of the Enzyme Defect. Science 1967, 156, 3783, 1740.
• 28. Steinberg D., Mize C.E., Herndorn J.H. Jr, et al.: Phytanic Acid in Patients With Refsum's Syndrome and Response to Dietary Treatment. Arch. Intern. Med., 1970, 125, 1, 75.
• 29. Was ist Retinitis Pigmentosa („RP")?, DRPV-INFO-SERIE Nr. 0, 12/1993.