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- Title
Dileme u postavljanju dijagnoze nasljednih metaboličkih bolesti analizom gena i kako si pomoći.
- Authors
Žigman, Tamara; Ramadža, Danijela Petković
- Abstract
Genetic methods enable the definition of molecular basis of the inborn error of metabolism, guide us towards the optimal treatment methods and enable genetic counselling, and sometimes prenatal diagnosis, if indicated. With the introduction of new generation sequencing technology in the diagnosis of hereditary metabolic diseases, the thinking paradigm about the diagnostic algorithm has also been shifted for some groups of diseases. Next generation sequencing methods have advantages and limitations that those who use them should understand. In the interpretation of unclear findings, some useful IT sources can help us, and are discussed in more details in the text. An indiscriminate and irrational approach in using new genetic technologies is not acceptable and cannot replace the knowledge and time that needs to be devoted to a patient with a rare disease.
- Publication
Lijecnicki Vjesnik, 2024, Vol 146, p130
- ISSN
0024-3477
- Publication type
Article
- DOI
10.26800/LV-146-supl1-19