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Publikováno v:
Ceskoslovenska patologie. 57(1)
Fabry disease is a rare X-linked hereditary storage disease caused by a mutation of the gene encoding alpha-galactosidase A. The clinical manifestation of the classical disease form is variable depending on the degree of individual organs involvement
Autor:
Dana Kautznerová, František Stejskal, Jiří Froněk, Pavel Trunecka, Julius Spicak, Denisa Erhartová, Hana Skopcová
Publikováno v:
Gastroenterologie a hepatologie. :287-292