Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia – ten years experience
The NBS estimated prevalence of MCADD in Macedonian population was more frequent than in the other European population and worldwide incidence in general. This is the first report of the genetic background of MCADD in North Macedonia.
Authors
- Nikolina Zdraveska (ORCID: https://orcid.org/0000-0001-5318-9554)
- Mirjana Kočova (ORCID: https://orcid.org/0000-0001-7097-3439)
- Violeta Anastasovska (ORCID: https://orcid.org/0000-0001-6308-9645)
- Maruša Debeljak (ORCID: https://orcid.org/0000-0003-0446-5465)
- Tine Tesovnik (ORCID: https://orcid.org/0000-0002-0234-2122)
- Jernej Kovač (ORCID: https://orcid.org/0000-0001-8576-1498)
Institutions
- Ljubljana University Medical Centre (SI)
- Ss. Cyril and Methodius University in Skopje (MK)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-03-02
- DOI
- https://doi.org/10.1515/jpem-2024-0537
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32