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Nielsen Johannes Vetner Max Holm Vagn Askjær Svend Aage Reske-Nielsen Edith 《Human genetics》1977,38(3):357-362
Summary A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971–1977), in reference to a probably autosomal recessive inheritance of this malformation. 相似文献
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H. C. Lou Gunhild K. Hølmer Edith Reske-Nielsen P. Vagn-Hansen 《Journal of neurochemistry》1974,22(3):377-381
Abstract— Lipid composition has been determined in brain frontal lobe gray and white matter from a 5-month-old patient who died from Menkes' disease, and from a normal control patient of the same age.
Total cholesterol and the amount of cholesterol esters were significantly increased in the case of Menkes' disease, whereas the values for free cholesterol were nearly unchanged.
In white matter a decrease in total galactolipids was observed in the pathological brain.
The values for total phospholipids were unchanged for the tissues, but the ratio between phosphatidylcholines and phosphatidylethanolamines (including ethanolamineplasmalogens) in white matter from the patient seemed increased. The fatty acid pattern of phosphatidylethanolamines (including ethanolamineplasmalogens), phosphatidylcholines and sphingomyelin were similar to those of the normal control. Phosphatidylethanolamines from pathological tissues contained 25–30 per cent polyunsaturated fatty acids with four, five or six double bonds. 相似文献
Total cholesterol and the amount of cholesterol esters were significantly increased in the case of Menkes' disease, whereas the values for free cholesterol were nearly unchanged.
In white matter a decrease in total galactolipids was observed in the pathological brain.
The values for total phospholipids were unchanged for the tissues, but the ratio between phosphatidylcholines and phosphatidylethanolamines (including ethanolamineplasmalogens) in white matter from the patient seemed increased. The fatty acid pattern of phosphatidylethanolamines (including ethanolamineplasmalogens), phosphatidylcholines and sphingomyelin were similar to those of the normal control. Phosphatidylethanolamines from pathological tissues contained 25–30 per cent polyunsaturated fatty acids with four, five or six double bonds. 相似文献
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