E-resources
Open access
-
Celic, Dejan; Pavlovic, Sonja; Skakic, Anita; Vucenovic, Jelica; Pilipovic, Dragana; Golubovic, Sonja; Stojsic, Tatjana; Milicevic, Olivera; Vojinovic, Goran; Dudic, Svetlana; Petrovic, Lada; Mitic, Igor
Srpski arhiv za celokupno lekarstvo, 05/2022, Volume: 150, Issue: 5-6Journal Article
Introduction/Objective. Fabry disease (FD) is an X-linked lysosomal storage disease that develops as a consequence of mutation in the alpha-galactosidase A (GLA) gene. There are more than 1080 known variants in the GLA gene. Some of them are pathogenic, but most of them are benign or represent the genetic change that can be classified as a genetic variant of unknown significance or simply be a representation of genetic polymorphism. There are two main features of FD, classic form and late-onset variants of disease. The main target organs in patients with FD are the kidneys, heart, and nervous system. Bearing in mind the fact that FD is a rare disease, the best way for active searching of patients is high-risk population screening, after which family screening for every proband case should be performed. Methods. In this paper, we present results of a multicentric pilot study that represents findings from the screening of hemodialysis patients for FD in six hemodialysis units in Vojvodina. Results. We have found one patient with benign mutation and 16 patients with genetic polymorphisms in GLA gene. We have learned that genetic changes in GLA gene can be frequent, but very rarely are of clinical significance and lead to manifestations of FD. Conclusion. Results of this screening study will give us important insights into our future work.
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.