Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene (CROSBI ID 617139)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Ramadža, Danijela P ; Mayr, JA ; Sarnavka, Vladimir: Ćuk, Mario ; Paležac, Lidija ; Fumić, Ksenija ; Bilić, Karmen ; Malčić, Ivan ; Barišić, Nina, Grubić, Marina ; Vuković, Jurica ; Žarković, Kamelija ; Ćorić, Marijana ; Sperl, W ; Regelsberger, G ; Barić, Ivo
engleski
Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene
Danon disease is an X-linked dominant disorder caused by deficiency of lysosomal-associated membrane protein 2 due to LAMP2 gene mutations. Main clinical characteristics are myopathy, cardiomyopathy and intellectual disability.
Danon disease; X-linked disorders; LAMP2 gene
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
S151-S151.
2014.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Journal of inherited metabolic disease
0141-8955
Podaci o skupu
Annual symposium of SSIEM
poster
02.09.2014-05.09.2014
Innsbruck, Austrija
Povezanost rada
Temeljne medicinske znanosti, Kliničke medicinske znanosti
