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1.
Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature 总被引:1,自引:0,他引:1
A Cantani M L Tacconi N Benincori A Picarazzi D Ceccoli S Gaudino 《Annales de génétique》1987,30(2):70-74
The Kaufman-McKusick syndrome (MK 23670) is a rare autosomal recessive disorder characterized by the triad of hydrometrocolpos, postaxial polydactyly, and congenital heart disease. Multiple other anomalies have been ascribed to this syndrome. Hydrometrocolpos, especially if unrecognized, may be a serious, life-threatening condition in the newborn girl. Forty-four cases have been so far reported in the literature. A great phenotypic variability occurs in this syndrome, therefore making it very difficult to identify the disorder at its presentation and classify it correctly. We shall hereafter review current data regarding the prominent clinical features, the diagnosis and treatment of this syndrome. Problems in genetic counseling will be discussed. 相似文献
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C Crone J Frokjaer-Jensen JJ Friedman O Christensen 《The Journal of general physiology》1978,71(2):195-220
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The development and execution of the first examples of a new and general approach to carbocyclic analogs of carbohydrates ("pseudo-sugars") is presented. Complete experimental details for the preparation of the carbocyclic analog of beta-D-fructofuranose 6-phosphate are described for the first time. In the conclusion, the success of the synthetic strategy is analyzed and an approach to retrosynthetic analysis based on "unitive synthons" is offered for consideration. 相似文献
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Racemic and chiral lactams as potent, selective and functionally active CCR4 antagonists 总被引:2,自引:0,他引:2
Newhouse B Allen S Fauber B Anderson AS Eary CT Hansen JD Schiro J Gaudino JJ Laird E Chantry D Eberhardt C Burgess LE 《Bioorganic & medicinal chemistry letters》2004,14(22):5537-5542
A series of racemic and chiral, nonracemic lactams that display high binding affinities, functional chemotaxis antagonism, and selectivity toward CCR4 are described. Compound 41, which provides reasonably high blood levels in mice when dosed intraperitoneally, was identified as a useful pharmacological tool to explore the role of CCR4 antagonism in animal models of allergic disease. 相似文献