PREŠOVSKÁ UNIVERZITA V PREŠOVE
UNIVERZITNÁ KNIŽNICA
UNIVERZITNÁ KNIŽNICA
| ID záznamu: | PU.Prešov.2014101614343772 |
|---|---|
| Kategória: | ADC |
| Autor: | Ivanov Ivan S. (19%) |
| Autor: | Azmanov Dimitar N. (19%) |
| Autor: | Ivanova Mariya B. (19%) |
| Autor: | Chamova Teodora (19%) |
| Autor: | Pacheva Ilyana H. (19%) |
| Autor: | Dojčáková Dana (5%) |
| Názov: | Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. [print, elektronický dokument] |
| Zdroj: | Molecular Genetics and Metabolism [print, elektronický dokument] : the Official journal of the Society for Inherited Metabolic Disorders |
| Lokácia: | Roč. 113, č. 1. - San Diego : Academic Press, (2014), s. 76-83 |
| ISSN: | 1096-7192. - ISSN 1096-7206 |
| Ohlas: | [1] 2014. BAHLO, M., TANKARD, R., LUKIC, V. et al. Using familial information for variant filtering in high-throughput sequencing studies. In Human genetics, ISSN 0340-6717. 2014, vol. 133, no. 11, s. 1331-1341. |
| Ohlas: | [1] 2015. SPERL, W., FLEUREN, L., FREISINGER, P. et al. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. In Journal of inherited metabolic disease, ISSN 0141-8955. 2015, vol. 38, no. 3, s. 391-403. |
| Ohlas: | [1] 2021. KIM, J.H., KIM, D.H., LIM, Y-H. et al. Childhood obesity-related mechanisms: micrornome and transcriptome changes in a nested case-control study. In Biomedicines, ISSN 2227-9059. 2021, roč. 9, č. 8, art.no. 878. SCOPUS;WOS:000688882200001. |
| Ohlas: | [1] 2020. ADANY, R., PIKO, P., FIATAL, S. et al. Prevalence of insulin resistance in the Hungarian general and Roma populations as defined by using data generated in a complex health (interview and examination) survey. In International journal of environmental research and public health, ISSN 1660-4601. 2020, roč. 17, č. 13, art. no. 4833. SCOPUS;WOS:000550348400001. |
| Ohlas: | [1] 2021. ZAGANAS, I., VORGIA, P., SPILIOTI, M. et al. Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes. In Epilepsy and behavior reports, ISSN 2589-9864. 2021, roč. 16, art. no. 100477. SCOPUS;WOS:000704709900008. |
| Ohlas: | [1] 2017. GIL-PENA, H., COTO, E., SANTOS, F. et al. A new SLC12A3 founder mutation (p.Va1647Met) in Gitelman's syndrome patients of Roma ancestry. In Nefrologia, ISSN 0211-6995. 2017, roč. 37, č. 4, s. 423-428. WOS:000406768900009. |
| Ohlas: | [1] 2016. MAYER, B., SILLÓ, P., MAZÁN, M. et al. A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. In British journal of dermatology, ISSN 0007-0963. 2016, roč. 175, č. 4, s. 721-727. SCOPUS;WOS:000383900800023. |
| Ohlas: | [1] 2016. LAKE, N.J., COMPTON, A.G., RAHMAN, S. et al. Leigh syndrome: One disorder, more than 75 monogenic causes. In Annals of neurology, ISSN 0364-5134. 2016, roč. 79, č. 2, s. 190-203. SCOPUS;WOS:000370643100005. |
| Ohlas: | [1] 2022. BRIVET, M., GAIGNARD, P., SCHIFF, M. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. In Inborn metabolic diseases : diagnosis and treatment. Heidelberg : Springer Verlag GmbH, 2022, s. 269-286. ISBN 978-366263123-2. SCOPUS. |
| Ohlas: | [1] 2023. PIKÓ, P., BÁBA, E.B., KÓSA, Z. et al. Genetic determinants of leisure-time physical activity in the Hungarian general and Roma populations. In Internatonal journal of molecular sciences, ISSN 1661-6596. 2023, roč. 24, č. 5, art no. 4566. WOS:000947319300001; SCOPUS. |
| Ohlas: | [1] 2024. JANZING, A.M., EKLUND, E., DE KONING, T.J. et al. Clinical characteristics suggestive of a genetic cause in cerebral palsy: a systematic review. In Pediatric neurology, ISSN 0887-8994. 2024, roč. 153, s. 144-151. WOS:001205823300001; SCOPUS. |
| Oblasť výskumu: | 130 |
