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Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation

  1. TitleCongenital 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
    Languageeng - English
    Document kindrozpis článkov z periodík (rbx)
    CitationsPAJUSALU, 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.
    CategoryADNA - 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 documentčlánok
    Year2021
    Registered inWOS
    Registered inSCOPUS
    DOI 10.4149/BLL_2021_030
    article

    article

    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    N
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    202120201.278Q30.387Q3
Number of the records: 1  

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