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Projects / Programmes source: ARIS

Razvoj rutinskih metod za dolocanje presnovkov galaktoze in genotipizacijo galaktozemij (Slovene)

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Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B000  Biomedical sciences   
Keywords
galactosemia, galactose metabolism, genotype, cataract, infertility, ovary cancer
Evaluation (rules)
source: COBISS
Evaluation of bibliographic research performance indicators according to ARIS methodology
Citations Citations for bibliographic records in COBIB.SI that are linked to records in citation databases
source: WoS source: Scopus source: COBISS
Researchers (9)
no. Code Name and surname Research area Role Period No. of publications
1.  13023  PhD Tadej Battelino  Medical sciences  Head  2000 - 2002  1,256 
2.  02278  PhD Ciril Kržišnik  Human reproduction  Researcher  2000 - 2002  458 
3.  03573  PhD Jana Lukač Bajalo  Microbiology and immunology  Researcher  2000 - 2002  302 
4.  12189  PhD Janja Marc  Metabolic and hormonal disorders  Researcher  2000 - 2002  723 
5.  18629  Vladimir Pfeifer  Neurobiology  Researcher  2000 - 2002  285 
6.  15416  PhD Barbara Požlep  Human reproduction  Researcher  2000 - 2002  72 
7.  19786  Majda Sirnik    Researcher  2000 - 2002  0 
8.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2000 - 2002  417 
9.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2000 - 2002  320 
Organisations (2)
no. Code Research organisation City Registration number No. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  78,616 
2.  0787  University of Ljubljana, Faculty of Pharmacy  Ljubljana  1626973  17,985 
Abstract
Heterozygous carriers of classical form of galactosemia may develop presenile cataract, infertility in women, and ovary cancer. Mutations in the gene for galactose-1-uridyltranspherase (GALT) in heterozygous state cause variable diminution of the enzyme activity. Among the most common mutations in the GALT gene are Q188R, K285N and N314D. In the ongoing studies we so far identified possible heterozygous carriers for GALT with biochemical measurements of galactitol in a group of patients with presenile cataract. We also optimised a method for isolation of DNA from very small quantities of blood or tissue and set the conditions for genotyping. The aim of the present project is to develop a quick and reliable method for the determination of the galactose metabolites in serum and tissues and for the genotyping of the GALT gene, that could be used in the routine diagnostics in patients with presenile cataract, and also introduce this methods in the diagnostics of infertility and ovary cancer. Such routine diagnostic approach would provide the means for early detection of heterozygous carriers in the population at risk and consequently for the specific treatment and prevention of further deterioration. Routine methods for determining galactose metabolites and screening for the GALT mutations would also prepare conditions for the introduction of neonatal galactosemia screening that we lack in Slovenia.
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