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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum

  1. TitleA novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum
    Author Ziburová Jana 1984- SAVCHEM - Chemický ústav SAV
    Co-authors 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 Šalingová Anna Šebová Claudia Ostrožlíková Mária Lekka Dimitra-Evanthia Brucknerová Jana Brucknerová Ingrid Skokňová Martina McCullough Alexandra Hrčková Gabriela Hlavatá Anna Bzdúch Vladimír
    Source document American Journal of Medical Genetics, Part A. Vol. 185A (2021), p. 3494-3501
    Languageeng - English
    Document kindrozpis článkov z periodík (rbx)
    CitationsABU BAKAR, N. - ASHIKOV, A. - BRUM, J.M. - SMEETS, R. - KERSTEN, M. - HUIJBEN, K. - KENG, W.T. - SPECK-MARTINS, C.E. - CARVALHO, D.R. - RIZZO, I.M.P.O. - MELLO, W.D. - HEINER-FOKKEMA, R. - GORMAN, K. - GRUNEWALD, S. - MICHELAKAKIS, H. - MORAITOU, M. - MARTINELLI, D. - SCHERPENZEEL, M. - JANSSEN, M. - BOER, L. - HEUVEL, L.P. - THIEL, C. - LEFEBER, D.J. Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1. In JOURNAL OF INHERITED METABOLIC DISEASE. ISSN 0141-8955, JUL 2022, vol. 45, no. 4, p. 769-781. Dostupné na: https://doi.org/10.1002/jimd.12496.
    CategoryADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted)
    Category of document (from 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Type of documentčlánok
    Year2021
    Registered inWOS
    Registered inSCOPUS
    Registered inCCC
    DOI 10.1002/ajmg.a.62474
    article

    article

    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    A
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    202120202.802Q31.064Q2
Number of the records: 1  

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