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Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation
Title Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation Author Lekka Dimitra Evanthia Ziburová Jana 1984- SAVCHEM - Chemický ústav SAV Nemčovič Marek 1973- SAVCHEM - Chemický ústav SAV Šesták Sergej 1960 SAVCHEM - Chemický ústav SAV Bellová Jana SAVCHEM - Chemický ústav SAV SCOPUS RID Pakanová Zuzana 1988- SAVCHEM - Chemický ústav SAV Siváková Barbara SAVCHEM - Chemický ústav SAV Mucha Ján 1952- SAVCHEM - Chemický ústav SAV Baráth Peter 1972- SAVCHEM - Chemický ústav SAV SCOPUS RID ORCID Co-authors Brucknerová Jana Šalingová Anna Šebová Klaudia Ostrožlíková Mária Skokňová Martina Bzdúch Vladimír Brucknerová Ingrid Source document Bratislava Medical Journal. Vol. 122 (2021), no. 3, p. 190-195 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations PAJUSALU, Sander - VALS, Mari-Anne - MIHKLA, Laura - SAMARINA, Ustina - KAHRE, Tiina - OUNAP, Katrin. The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases. In FRONTIERS IN GENETICS, 2021, vol. 12, no., pp. Dostupné na: https://doi.org/10.3389/fgene.2021.719437. Category ADNA - Scientific papers in domestic impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2021 Registered in WOS Registered in SCOPUS DOI 10.4149/BLL_2021_030 article
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2021 2020 1.278 Q3 0.387 Q3
Number of the records: 1