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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
Title A 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 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations ABU 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. Category ADCA - 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 document článok Year 2021 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1002/ajmg.a.62474 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2021 2020 2.802 Q3 1.064 Q2
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