1. Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

   Laeremans, H., Turner, C., Andersson, T., de Juan, J. A. C., Gerrard, A., Heiner-Fokkema, M. R., Herebian, D., Janzen, N., la Marca, G. & Rudebeck, M., May-2020, In : Journal of Inherited Metabolic Disorders. 53, 1, p. 90-102 13 p.

   Research output: Contribution to journal › Article › Academic › peer-review

2. Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

   Diekman, E. F., Boelen, C. C. A., Prinsen, B. H. C. M. T., Ijlst, L., Duran, M., de Koning, T. J., Waterham, H. R., Wanders, R. J. A., Wijburg, F. A. & Visser, G., 2013, In : Journal of Inherited Metabolic Disorders. 7, p. 1-6 6 p.

   Research output: Contribution to journal › Article › Academic › peer-review

3. High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase

   Heitink-Pollé, K. M. J., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M. & Bierings, M. B., 2013, In : Journal of Inherited Metabolic Disorders. 7, p. 103-108 6 p.

   Research output: Contribution to journal › Article › Academic › peer-review

4. Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

   Zoons, E., de Koning, T. J., Abeling, N. G. G. M. & Tijssen, M. A. J., 2012, In : Journal of Inherited Metabolic Disorders. 4, p. 99-102 4 p.

   Research output: Contribution to journal › Article › Academic › peer-review

5. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

   Sentner, C. P., Vos, Y. J., Niezen-Koning, K. N., Mol, B. & Smit, G. P. A., 2013, In : Journal of Inherited Metabolic Disorders. 7, p. 19-26 8 p.

   Research output: Contribution to journal › Article › Academic › peer-review

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