[Hepatocerebral dystrophy in the Bashkir ASSR].
Results of clinico-genetic examinations of 26 patients with hepatocerebral dystrophy and of 36 relatives of theirs was presented. The genogeography of this disease in the Bashkir Autonomous Republic was studied. It is stressed that the determination of the ceruloplasmin blood levels are not sufficiently informative for diagnosing the heterozygotic carrying. The problem of clinical polymorphism of the hepatocerebral dystrophy is discussed.
D000293:Adolescent; D000328:Adult; D002570:Ceruloplasmin / Q000097:blood; D002648:Child; D005006:Ethnicity; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic; D012426:Russia
D002570:Ceruloplasmin
Gepatotserebral'naia distrofiia v Bashkirskoĭ ASSR.