[Clinical polymorphism and ceruloplasmin variants in hepatolenticular degeneration].
The relationship between differences in the clinical polymorphism of hepatolenticular degeneration (Wilson's disease) and characteristics of CP (ceruloplasmin) structural changes were investigated. The comparative study of Wilson's disease patients revealed two forms of clinical development of this disease which differ from each other by the expression of the visceral symptoms preceding the establishment of the typical neurological picture. The peptide map analysis of tryptic hydrolysates of the CP from individual patients has demonstrated the altered peptide patterns in five cases. Clinical and genetic heterogeneity of Wilson's disease is discussed.
D000293:Adolescent; D000328:Adult; D002384:Catalysis; D002570:Ceruloplasmin / Q000235:genetics*; D055598:Chemical Phenomena; D002621:Chemistry; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006868:Hydrolysis; D008297:Male; D009905:Optical Rotatory Dispersion; D010455:Peptides; D011110:Polymorphism, Genetic; D011487:Protein Conformation; D014357:Trypsin
D010455:Peptides; D002570:Ceruloplasmin; D014357:Trypsin
Klinicheskiĭ polimorfizm i varianty tseruloplazmina pri gepatolentikuliarnoĭ degeneratsii.