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N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, Heckel E, Muscarnera G, van Vliet PP, Sturiale L, Messina A, Romeo DA, van Karnebeek CDM, Wen XY, Hinek A, Molina T, Andelfinger G, Ellezam B, Yamanaka Y, Olivos HJ, Morales CR, Joyal JS, Lefeber DJ, Garozzo D, Dumont NA, Pshezhetsky AV. Da Silva A, et al. Among authors: van karnebeek cdm. Sci Adv. 2023 Jun 30;9(26):eade6308. doi: 10.1126/sciadv.ade6308. Epub 2023 Jun 30. Sci Adv. 2023. PMID: 37390204 Free PMC article.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
Post MA, de Wit I, Zijlstra FSM, Engelke UFH, van Rooij A, Christodoulou J, Tan TY, Le Fevre A, Jin D, Yaplito-Lee J, Lee BH, Low KJ, Mallick AA, Õunap K, Pitt J, Reardon W, Vals MA, Wortmann SB, Wessels HJCT, Bärenfänger M, van Karnebeek CDM, Lefeber DJ. Post MA, et al. Among authors: van karnebeek cdm, van rooij a. J Inherit Metab Dis. 2023 Mar;46(2):313-325. doi: 10.1002/jimd.12588. Epub 2023 Feb 1. J Inherit Metab Dis. 2023. PMID: 36651519
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
den Hollander B, Brands MM, de Boer L, Haaxma CA, Lengyel A, van Essen P, Peters G, Kwast HJT, Klein WM, Coene KLM, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. Among authors: van essen p, van karnebeek cdm. J Inherit Metab Dis. 2023 Sep;46(5):956-971. doi: 10.1002/jimd.12643. Epub 2023 Jul 8. J Inherit Metab Dis. 2023. PMID: 37340906
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study.
Edridge A, Namazzi R, Tebulo A, Mfizi A, Deijs M, Koekkoek S, de Wever B, van der Ende A, Umiwana J, de Jong MD, Jans J, Verhoeven-Duif N, Titulaer M, van Karnebeek C, Seydel K, Taylor T, Asiimwe-Kateera B, van der Hoek L, Kabayiza JC, Mallewa M, Idro R, Boele van Hensbroek M, van Woensel JBM. Edridge A, et al. J Pediatr. 2023 Jul;258:113360. doi: 10.1016/j.jpeds.2023.02.007. Epub 2023 Feb 23. J Pediatr. 2023. PMID: 36828342 Free article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: van karnebeek cdm. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
152 results