Publications by authors named "Slavka Vrabelova"
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in the majority of severe cases, also the biosynthesis of aldosterone. Approximately 95% of all CAH cases are caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene and its inactive pseudogene (CYP21A1P) are located within the HLA class III region of the major histocompatibility complex (MHC) locus on chromosome 6p21.
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- Wilson disease (WD) is a genetic disorder affecting copper transport, linked to mutations in the ATP7B gene, leading to various clinical symptoms like liver and neurological issues.
- A study analyzed mutations in 227 patients from the Czech Republic and Slovakia, identifying over 80% of mutant alleles, with the most common mutation being H1069Q, found in 57% of alleles.
- The research discovered 13 new mutations and suggests that testing for five specific prevalent mutations could detect 70% of cases, aiding in early diagnosis and classification of WD.