Ataxia with isolated vitamin E deficiency in four siblings

Rosenblum, 1981, A progressive neurologic syndrome in children with chronic liver disease, N Engl J Med, 304, 503, 10.1056/NEJM198102263040902 Weder, 1984, Neurological disorder of vitamin E in acquired intestinal malabsorption, Neurology, 34, 1561, 10.1212/WNL.34.12.1561 Bertoni, 1984, Small bowel resection with vitamin E deficiency and progressive spinocerebellar syndrome, Neurology, 34, 1046, 10.1212/WNL.34.8.1046 Muller, 1983, Vitamin E and neurological function, Lancet, 29, 225, 10.1016/S0140-6736(83)92598-9 Satya-Murti, 1984, The spectrum of neurologic disorder of vitamin E deficiency in acquired intestinal malabsorption, Neurology, 34, 1561, 10.1212/WNL.34.12.1561 Harding, 1985, Spinocerebellar degeneration associated with a selective defect of vitamin E absorption, N Engl J Med, 313, 32, 10.1056/NEJM198507043130107 Sokol, 1985, Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis, N Engl J Med, 313, 1580, 10.1056/NEJM198512193132505 Sokol, 1988, Isolated vitamin E deficiency in the absence of fat malabsorption—familial and sporadic cases. Characterization and investigation of causes, J Lab Clin Med, 111, 548 Ben Hamida, 1983, Localization of Friederich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping, Nature Genet, 5, 195, 10.1038/ng1093-195 Ouahechi, 1995, Ataxia with isolated vitamin E deficiency caused by mutations in the α-tocopherol transfer protein, Nature Genet, 9, 141, 10.1038/ng0295-141 Hansen, 1969, A fluorometric micromethod for serum vitamins A and E, J Clin Pathol, 51, 538, 10.1093/ajcp/51.4_ts.538 Millis, 1987, Specific synthesis of DNA in vitro: via a polymerase catalysed chain reaction, Methods Enzymol, 155, 335, 10.1016/0076-6879(87)55023-6 Beutler, 1984, 83 Beutler, 1984, 105 Shinar, 1989, Oxidative damage to human red cells induced by copper and iron complexes in the presence of ascorbate, Biochim Biophys Acta, 1014, 66, 10.1016/0167-4889(89)90241-3 Meyerstein, 1986, Erythrocyte involvement in chronic lymphocytic leukaemia, Scand J Haematol, 36, 138, 10.1111/j.1600-0609.1986.tb00817.x Stocks, 1970, A direct thiobarbituric acid reacting chromogen in human red blood cells, Clin Chim Acta, 27, 117, 10.1016/0009-8981(70)90383-9 Takanari, 1995, Adult onset spinocerebellar dysfunction caused by a mutation in the gene for the gene for the α-tocopherol transfer protein, N Engl J Md, 33, 1313 Sheffield, 1993, The sensitivity of simple strand conformation polymorphism analysis for the detection of single base substitution, Genomics, 16, 325, 10.1006/geno.1993.1193 Mazor, 1995, Erythrocyte changes in a vitamin E deficient Bedouin family. Burk, 1981, Neuromyopathy and vitamin E deficiency in man, Neuropediatrics, 12, 267, 10.1055/s-2008-1059657 Berger, 1991, Retinopathy in human vitamin E deficiency, Am J Ophthalmol, 111, 774, 10.1016/S0002-9394(14)76791-1 Vatassery, 1984, Effect of age on vitamin E concentration in various regions of the brain and a few selected peripheral tissues of the rat, and on uptake of radioactive vitamin E by various regions of rat brain, J Neurochem, 43, 409, 10.1111/j.1471-4159.1984.tb00916.x Rayner, 1993, Isolated vitamin E deficiency and progressive ataxia, Arch Dis Child, 69, 602, 10.1136/adc.69.5.602