Specialization
Pediatrics, Metabolic disorders, Pyridoxine-dependent epilepsy (PDE)
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Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen
den Hollander, B., Brands, M. M., Nijhuis, I. J. M., Doude van Troostwijk, L. J. A. E., van Essen, P., Hofsteenge, A. H., Koot, B. G., Müller, A. R., Tseng, L. A., Stroes, E. S. G., van de Ven, P. M., Wiegman, A. & van Karnebeek, C. D. M., May 2024, In: Molecular Genetics and Metabolism. 142, 1, p. 108347 108347.Research output: Contribution to journal › Article* › Academic › peer-review
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Association between Lysine Reduction Therapies and Cognitive Outcomes in Patients with Pyridoxine-Dependent Epilepsy
Coughlin, C. R., Tseng, L. A., Bok, L. A., Hartmann, H., Footitt, E., Striano, P., Tabarki, B. M., Lunsing, R. J., Stockler-Ipsiroglu, S., Gordon, S., Van Hove, J. L. K., Abdenur, J. E., Boyer, M., Longo, N., Andrews, A., Janssen, M. C. H., Van Wegberg, A., Prasad, C., Prasad, A. N. & Lamb, M. M. & 4 others, , 6 Dec 2022, In: Neurology. 99, 23, p. E2627-E2636Research output: Contribution to journal › Article* › Academic › peer-review
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Clinical Reasoning: Pediatric Seizures of Unknown Cause
Tseng, L. A., Hoytema van Konijnenburg, E. M. M., Longo, N., Andrews, A., van Wegberg, A., Coene, K. L. M., Coughlin, C. R. & van Karnebeek, C. D. M., 14 Jun 2022, In: Neurology. 98, 24, p. 1023-1028 6 p.Research output: Contribution to journal › Article* › Academic › peer-review
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