Avtor/Urednik		Kotnik, Jožica
Naslov		Fabryjeva bolezen v Sloveniji - skupinska obravnava in zdravljenje
Tip		članek
Vir		In: Miljković J, editor. 2. dermatološki dnevi. Zbornik predavanj Strokovno izpopolnjevanje iz dermatologije z mednarodno udeležbo; 2004 nov 5-7; Maribor. Maribor: Splošna bolnišnica Maribor,
Leto izdaje		2004
Obseg		str. 45-8
Jezik		slo
Abstrakt		Fabry disease is an X-chromosome linked inborn error of glycosphingolipid metabolism resulting from the deficient activity of tfie lysosomal enzyme hydrolase alpha-galactosidase A. This defect leads to the systemic accumulation of glycosphingolipids in different organs. Clinical manifestations begin in adolescence with acroparesthesias and angiokeratomas which are then followed by kidney, heart, eye and brain alterations in mature stage. The disease is usually recognized during this phase. The treatment of Fabry disease was until recently strictly symptomatic. Since September 2003 we have shifted towards enzyme substitution therapy. in lune 2004 Center for treatment of the patients mith Fabry disease was founded.
Deskriptorji		FABRY'S DISEASE ALPHA-GALACTOSIDASE SLOVENIA