
Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation
Author(s) -
Dimitra-Evanthia Lekka,
Jana Brucknerová,
Anna Šalingová,
Claudia Šebová,
Mária Ostrožlíková,
Jana Ziburová,
Marek Nemčovič,
Sergej Śesták,
Jana Bellová,
Zuzana Pakanová,
Barbara Siváková,
Martina Skokňová,
Vladimı́r Bzdúch,
Ján Mucha,
Péter Baráth,
Ingrid Brucknerová
Publication year - 2021
Publication title -
bratislavské lekárske listy/bratislava medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.387
H-Index - 32
eISSN - 1336-0345
pISSN - 0006-9248
DOI - 10.4149/bll_2021_030
Subject(s) - glycosylation , term (time) , medicine , bioinformatics , group (periodic table) , genetics , computational biology , biology , chemistry , physics , organic chemistry , quantum mechanics