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.

Autor: Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G., van Eeghen, A. M.

Publikováno v: BMC Psychiatry; 1/4/2024, Vol. 24 Issue 1, p1-14, 14p

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

Autor: van der Veen, S. J., Körver, S., Hirsch, A., Hollak, C. E.M., Wijburg, F. A., Brands, M. M., Tøndel, C., van Kuilenburg, A. B.P., Langeveld, M.

Publikováno v: Molecular genetics and metabolism, 135(2), 163-169. Academic Press Inc.
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 135(2), 163-169. Academic Press Inc.
van der Veen, S J, Körver, S, Hirsch, A, Hollak, C E M, Wijburg, F A, Brands, M M, Tøndel, C, van Kuilenburg, A B P & Langeveld, M 2022, ' Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression ', Molecular Genetics and Metabolism, vol. 135, no. 2, pp. 163-169 . https://doi.org/10.1016/j.ymgme.2021.12.004
Molecular Genetics and Metabolism, 135(2), 163-169. Academic Press

Background: Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage. However, with the clinically asymptomatic progression of renal, cardiac and cerebra

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Subnormal response of plasma glucose concentration to glucagon despite adequate glycogenolysis: the importance of kinetic measurements.

Autor: Sprangers, F., Wijburg, F. A., Romijn, J. A., Ackermans, M. T., Hoekstra, J. H., Heymans, H. S. A., Sauerwein, H. P., Heymans, H S (AUTHOR)

Publikováno v: European Journal of Pediatrics. 2001, Vol. 160 Issue 3, p185-188. 4p.