Research output per year
Research output per year
Personal profile
Specialisation
Pediatrics, Metabolic disorders, Pyridoxine-dependent epilepsy (PDE)
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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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
Open Access -
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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A case for newborn screening for pyridoxine-dependent epilepsy
Coughlin, C. R., Tseng, L. A. & van Karnebeek, C. D. M., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2Research output: Contribution to journal › Article* › Academic › peer-review
Open Access -
Pyridoxine-dependent epilepsy: Towards newborn screening
Tseng, L. A., 2022, 396 p.Research output: Doctoral thesis › Thesis, fully internal
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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
Tseng, L. A., Teela, L., Janssen, M. C., Bok, L. A., Willemsen, M. A. A. P., Neuteboom, R. F., Haverman, L., Gospe, S. M., Coughlin, C. R. & van Karnebeek, C. D. M., 1 Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 100853.Research output: Contribution to journal › Article* › Academic › peer-review
Open Access