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Abstract Alkaptonuria (AKU) is the first described inborn error of metabolism and a classical example of rare autosomal recessive disease. AKU patients carry homozygous or compound heterozygous mutations of the gene coding for enzyme homogentisate dioxygenase (HGD) involved in metabolism of...
Abstract Genetic diagnostics of hereditary breast and ovarian cancer (HBOC) has been performed in Slovakia in many different forms before the year 2000. Complex HBOC genetic analysis consists of many steps, including the initial genetic consultation, laboratory testing of genes associated with...
Abstract Lupus nephritis (LN) is a severe and frequent complication of systemic lupus erythematosus (SLE). Untreated cases very often lead to patients’ death; therefore, it is important to use markers sensitive and specific enough for the diagnosis and subsequent monitoring of nephritis....
Abstract An overview of the diagnostics and treatment of phenylketonuria in Slovakia is presented in this paper. The nature of diseases, incidence and prevalence in Slovakia, its genetic characteristics, current laboratory diagnostics and treatment options are defined. A new method of...
Abstract Sjögren’s syndrome is a slowly progressive, inflammatory autoimmune disease primarily affecting exocrine glands. Lymphocytic infiltrates replace functional epithelium and lead to decreased exocrine secretion of salivary and lacrimal glands - xerocrinopathy. Glands of intestinal system...
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