Sialidosis type I - biochemical and medical aspects (CROSBI ID 516169)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Varljen, Jadranka ; Marković, Dubravko ; Sepčić, Juraj ; Kirigin, Mladenka ; Milin, Čedomila
engleski
Sialidosis type I - biochemical and medical aspects
Two juvenile patients, cousins, with macular cherry-red spots, progressive myoclonic epilepsy and without dementia have been found in the autochthonous family from Istra (Croatia). Pathohistologic investigations proved storage disease. Skin fibroblasts culture of both patients, using a fetuin as substrate showed a complete deficiency of an alpha (2-6) neuraminidase. The activity of other lysosomal enzymes and beta-galactosidase was within the normal values. In both patients and seven of their relatives, the increased urinary excreting of sialyloligosaccharides was determinated using a thin layer chromatography. A minor quantity of sialyloligosaccharides was also discovered in the cousin's urine, where a nephrophaty with terminal renal insufficiency appeared, but without any neurological simptoms, while her brother and sister died of the identical illnes.
Sialidosis type I
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
177-x.
1987.
objavljeno
Podaci o matičnoj publikaciji
Abstracts
Ljubljana:
Podaci o skupu
18th FEBS Meeting
predavanje
28.06.1987-03.07.1987
Ljubljana, Jugoslavija