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New homozygous mutation in ALG12 gene associated with the accumulation of serum GlcNAc2Man7 N-glycan resulted in CDG-I disirder in newborn patient
Title New homozygous mutation in ALG12 gene associated with the accumulation of serum GlcNAc2Man7 N-glycan resulted in CDG-I disirder in newborn patient 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 Dimitra - Evanthia Lekka Brucknerová Jana Brucknerová Ingrid Skokňová Martina Tekelyová Alexandra Bzdúch Vladimír Source document DIRGOVÁ LUPTÁKOVÁ, Iveta - BEŇO, Miroslav (eds.). Book of Abstracts: 7th International Scientific Conference Applied Natural Sciences 2019, September 25-27, 2019, Tále, Low Tatras, Slovakia. P. 137. - Trnava : University of SS. Cyril and Methodius in Trnava Language eng - English Document kind rozpis článkov z periodík (rzb) Category AFH - Abstracts of papers from domestic conferences Year 2019 
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