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Autor:
Merel A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito‐Lee, Beom Hee Lee, Karen J. Low, Andrew A. Mallick, Katrin Õunap, James Pitt, William Reardon, Mari‐Anne Vals, Saskia B. Wortmann, Hans J. C. T. Wessels, Melissa Bärenfänger, Clara D. M. van Karnebeek, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325
Contains fulltext : 290862.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N-glycosylation can b