Pregled bibliografske jedinice broj: 479023
Cryptogenic stroke-challenges in recognizing and treating fabry disease
Cryptogenic stroke-challenges in recognizing and treating fabry disease // Acta clinica Croatica, 49 (2010), 2; 25-25 (međunarodna recenzija, pregledni rad, znanstveni)
CROSBI ID: 479023 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Cryptogenic stroke-challenges in recognizing and treating fabry disease
Autori
Demarin, Vida
Izvornik
Acta clinica Croatica (0353-9466) 49
(2010), 2;
25-25
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, znanstveni
Ključne riječi
Fabry disease; ischaemic stroke; enzyme replacement therapy
Sažetak
Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from defi ciency of the lysosomal hydroxylase, alpha galactosidase A (AGLA). In humans, the disease is characterised by the systemic accumulation of the glycosphingolipid substrate, ceramide trihexoside (CTH) and ceramide dihexoside in tissue. Clinical manifestations of Fabry disease include chronic pain, kidney impairment, skin lesions, ocular opacities, vascular deterioration, stroke and cardiac defi ciencies leading to premature mortality. Recently, enzyme replacement therapy (ERT) has become available.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
134-1340036-0033 - Uloga genetskih markera u razvoju cerebralne aterosklerotske bolesti (Demarin, Vida, MZOS ) ( CroRIS)
134-1340036-0034 - Funkcijska dijagnostika moždane cirkulacije (Lovrenčić-Huzjan, Arijana, MZOS ) ( CroRIS)
Ustanove:
KBC "Sestre Milosrdnice"
Profili:
Vida Demarin
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
Uključenost u ostale bibliografske baze podataka::
- MEDLINE
