| Oral D-galactose supplementation in PGM1-CDG SYW Wong, T Gadomski, M Van Scherpenzeel, T Honzik, H Hansikova, ... Genetics in Medicine 19 (11), 1226-1235, 2017 | 79 | 2017 |
| Clinical glycomics for the diagnosis of congenital disorders of glycosylation N Abu Bakar, DJ Lefeber, M van Scherpenzeel Journal of inherited metabolic disease 41, 499-513, 2018 | 72 | 2018 |
| Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation A Ashikov, N Abu Bakar, XY Wen, M Niemeijer, G Rodrigues Pinto Osorio, ... Human molecular genetics 27 (17), 3029-3045, 2018 | 49 | 2018 |
| Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function XY Wen, M Tarailo-Graovac, K Brand-Arzamendi, A Willems, B Rakic, ... JCI insight 3 (24), 2018 | 45 | 2018 |
| PGM1 deficiency: substrate use during exercise and effect of treatment with galactose NC Voermans, N Preisler, KL Madsen, MCH Janssen, B Kusters, ... Neuromuscular Disorders 27 (4), 370-376, 2017 | 39 | 2017 |
| Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency NA Bakar, NC Voermans, T Marquardt, C Thiel, MCH Janssen, ... Translational Research 199, 62-76, 2018 | 31 | 2018 |
| Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots F Conte, E Morava, NA Bakar, SB Wortmann, AJ Poerink, S Grunewald, ... Molecular genetics and metabolism 131 (1-2), 135-146, 2020 | 22 | 2020 |
| A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy W van Tol, A Ashikov, E Korsch, N Abu Bakar, MA Willemsen, C Thiel, ... JIMD reports 50 (1), 31-39, 2019 | 15 | 2019 |
| Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1 N Abu Bakar, A Ashikov, JM Brum, R Smeets, M Kersten, K Huijben, ... Journal of Inherited Metabolic Disease 45 (4), 769-781, 2022 | 14 | 2022 |
| Glycomics by mass spectrometry for the diagnosis of congenital disorders of glycosylation (CDG) (http://dx.doi.org/10.13140/RG.2.2.20929.84327) N Abu Bakar Radboud University Nijmegen, The Netherlands (https://repository.ubn.ru.nl …, 2020 | | 2020 |
| Glycomics as an Innovative Approach for Personalized Medicine S Holst, NA Bakar, M van Scherpenzeel, M Wuhrer, DJ Lefeber Handbook of Biomarkers and Precision Medicine, 394-404, 2019 | | 2019 |
