Specialization
Child maltreatment
Focus of research
The evaluation of screening programs for child maltreatment in hospitals
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Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: A review of phenotypes and therapeutic strategies in 899 patients
Hoytema van Konijnenburg, E. M. M., Ying, J., Salomons, G. S., Wortmann, S. B., Muffels, I. J. J. & Fuchs, S. A., 1 Sept 2026, In: Genetics in Medicine. 28, 9, 102608.Research output: Contribution to Journal › Review article › Academic › peer-review
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Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies
Mendes, M. I., Smith, D. E., Spek, V., Bosch, A. M., Corpeleijn, W. E., Engelen, M., Fuchs, S. A., Hadchouel, A., Heinemann, I. U., Houtkooper, R. H., Hoytema van Konijnenburg, E. M. M., Kemp, S., Langeveld, M., Karnebeek, C. D. M., Pop, A., Siu, V. M., Wolf, N. I. & Salomons, G. S., May 2026, In: Journal of inherited metabolic disease. 49, 3, e70184.Research output: Contribution to Journal › Review article › Academic › peer-review
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Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Hulshof, E. M., Lantinga, H. P., Alkemade, G., Bosch, A. M., Brands, M. M., Vliet, D.D.-V., Haijer-Schreuder, A. B., Hoytema van Konijnenburg, E. M. M., Janssen, M. C. H., van der Klauw, M. M., Langeveld, M., Lubout, C. M. A., van Ockenburg, S. L., Oussoren, E., Panis, B., Sjouke, B., de Vries, M., Wagenmakers, M. A. E. M., Wijnen, M. & Sival, D. A. & 3 others, , 1 Nov 2025, In: Journal of inherited metabolic disease. 48, 6, e70105.Research output: Contribution to Journal › Article › Academic › peer-review
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