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Huntington's chorea: a centenary review 总被引:2,自引:0,他引:2
K W Heathfield 《Postgraduate medical journal》1973,49(567):32-45
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Uptake of dopamine and 5-hydroxytryptamine (5-HT) by the platelets of 25 symptom-free relatives of patients with established Huntington's chorea (HC) was not significantly different from that of control subjects. Platelet uptake of 5-HT in 3 subjects with early signs of the disease showed increased Km and Vmax values. Increased platelet uptake of 5-HT in patients with established HC was confirmed in a further 3 patients. It seems that this phenomenon appears with the clinical evidence of the disease. Further investigation of the nature of the platelet uptake abnormality may cast light on pathogenic factors in HC. 相似文献
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Huntington's chorea: a partial model of the ageing process 总被引:1,自引:0,他引:1
D C Wallace 《The Medical journal of Australia》1971,2(25):1275-1276
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C O Carter K A Evans M Baraitser 《British medical journal (Clinical research ed.)》1983,286(6361):281-283
The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic. 相似文献
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