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Cold Spring Harbor Molecular Case Studies|February 26, 2022
A case for newborn screening for pyridoxine-dependent epilepsyCurtis R Coughlin, Laura A Tseng, Clara D M van Karnebeek
Emerging Topics in Life Sciences|February 1, 2021
P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic diseaseLaura A Tseng, Claire Sowerbutt, Jessica J Y Lee, et al.
Frontiers in Neurology|December 19, 2018
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable ConditionsClara D M van Karnebeek, Bryan Sayson, Jessica J Y Lee, et al.
Frontiers in Neurology|March 6, 2020
A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)Hilde A G Warmerdam, Elise A Termeulen-Ferreira, Laura A Tseng, et al.
Orphanet Journal of Rare Diseases|April 13, 2021
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital appEva M M Hoytema van Konijnenburg, Saskia B Wortmann, Marina J Koelewijn, et al.
Neurology|April 26, 2022
Clinical Reasoning: Pediatric Seizures of Unknown CauseLaura A Tseng, Eva M M Hoytema van Konijnenburg, Nicola Longo, et al.
Inflammatory Bowel Diseases|January 13, 2017
Complications and Disease Recurrence After Primary Ileocecal Resection in Pediatric Crohn's Disease: A Multicenter Cohort AnalysisKay Diederen, Lissy de Ridder, Patrick van Rheenen, et al.
Molecular Genetics and Metabolism|February 24, 2024
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of VolanesorsenBibiche den Hollander, Marion M Brands, Ilse J M Nijhuis, et al.
Molecular Genetics and Metabolism|March 13, 2022
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsyLaura A Tseng, Jose E Abdenur, Ashley Andrews, et al.
Neurology|August 25, 2022
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent EpilepsyCurtis R Coughlin, Laura A Tseng, Levinus A Bok, et al.
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