Medical-genetic study was carried out in the population of Samarkand province (the population size about 150 000). Hereditary pathology was ascertained among families with two or more affected members...
[The diagnostic course in patients with hereditary ataxias and hereditary spastic paraparesis]
[Article in Italian]
Leone M, Bottacchi E, D'Ambrosio R, Mittino D, Rosso MG, Brignolio F.
U.O. di...
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence ...