LEKKA, D. E. et al. Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation. In Bratislavské lekárske listy, 2021, vol. 122, no. 3, s. 190-195. ISSN 0006-9248. Bratislava : AEPress, 2021.