Specialization
Pediatrics, Metabolic disorders, Pyridoxine-dependent epilepsy (PDE)
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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Coughlin, C. R., Tseng, L. A., Abdenur, J. E., Ashmore, C., Boemer, F., Bok, L. A., Boyer, M., Buhas, D., Clayton, P. T., Das, A., Dekker, H., Evangeliou, A., Feillet, F., Footitt, E. J., Gospe, S. M., Hartmann, H., Kara, M., Kristensen, E., Lee, J., Lilje, R., & 17 others, Jan 2021, In: Journal of inherited metabolic disease. 44, 1, p. 178-192 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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P4 medicine for epilepsy and intellectual disability: Nutritional therapy for inherited metabolic disease
Tseng, L. A., Sowerbutt, C., Lee, J. J. Y. & van Karnebeek, C. D. M., 1 Mar 2019, In: Emerging Topics in Life Sciences. 3, 1, p. 75-95Research output: Contribution to journal › Review article › Academic › peer-review
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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., & 3 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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