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  1. 2023

  2. Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism

    Stroek, K., Visser, A., van der Ploeg, C. P. B., Zwaveling-Soonawala, N., Heijboer, A. C., Bosch, A. M., van Trotsenburg, A. S. P., Boelen, A., Hoogendoorn, M. & de Jonge, R., 1 Jun 2023, In: Clinical biochemistry. 116, p. 7-10 4 p.

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

  3. Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships

    Rosenberg, N., Stolwijk, N. N., van den Berg, S., Heus, J. J., van der Wel, V., van Gelder, T., Bosch, A. M., de Visser, S. J. & Hollak, C. E. M., 2023, (E-pub ahead of print) In: Journal of inherited metabolic disease.

    Research output: Contribution to journal › Review article › Academic › peer-review

  4. 2022

  5. Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy

    Jaeger, B., Corpeleijn, W., Dijsselhof, M., Goorden, S., Haverkamp, J., Langeveld, M., Waterham, H., Westerbeek, E. & Bosch, A. M., 1 Dec 2022, In: Neonatology. 119, 6, p. 777-780 4 p.

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

  6. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

    Katler, Q. S., Stepien, K. M., Paull, N., Patel, S., Adams, M., Balci, M. C., Berry, G. T., Bosch, A. M., DeLaO, A., Demirbas, D., Edman, J., Ficicioglu, C., Goff, M., Hacker, S., Knerr, I., Lancaster, K., Li, H., Mendelsohn, B. A., Nichols, B., de Rezende Pinto, W. B. V., & 8 othersRocha, J. L. C. S., Rubio-Gozalbo, M. E., Saad-Naguib, M., Scholl-Buergi, S., Searcy, S., de Souza, P. V. S., Wittenauer, A. & Fridovich-Keil, J. L., Nov 2022, In: Journal of inherited metabolic disease. 45, 6, p. 1106-1117 12 p.

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

  7. Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

    Hermans, M. E., van Weeghel, M., Vaz, F. M., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., van Kuilenburg, A. B. P., Pras-Raves, M. L., Wamelink, M. M. C., Wanders, R. J. A., Welsink-Karssies, M. M. & Bosch, A. M., Nov 2022, In: Journal of inherited metabolic disease. 45, 6, p. 1094-1105 12 p.

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

  8. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

    Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, Nov 2022, In: Annals of clinical and translational neurology. 9, 11, p. 1715-1726 12 p.

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

  9. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

    van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., Santra, S., de Laet, C., Goyens, P. J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J. R., van Hasselt, P. M., Wilcox, G., Morris, A. A. M., Jameson, E. A., & 15 othersde la Parra, A., Arias, C., Garcia, M. I., Cornejo, V., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J. & van Spronsen, F. J., Sept 2022, In: Journal of inherited metabolic disease. 45, 5, p. 952-962 11 p.

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

  10. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

    Schwantje, M., Fuchs, S. A., de Boer, L., Bosch, A. M., Cuppen, I., Dekkers, E., Derks, T. G. J., Ferdinandusse, S., Ijlst, L., Houtkooper, R. H., Maase, R., van der Pol, W. L., de Vries, M. C., Verschoof-Puite, R. K., Wanders, R. J. A., Williams, M., Wijburg, F. & Visser, G., Jul 2022, In: Journal of inherited metabolic disease. 45, 4, p. 804-818 15 p.

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

  11. 2021

  12. Inflammatory arthritis complicating galactosialidosis: a case report

    Verkuil, F., Bosch, A. M., Struijs, P. A. A., Hemke, R. & van den Berg, J. M., 1 Dec 2021, In: BMC Rheumatology. 5, 1, 41.

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

  13. Phenylketonuria

    van Spronsen, F. J., Blau, N., Harding, C., Burlina, A., Longo, N. & Bosch, A. M., 1 Dec 2021, In: Nature reviews. Disease primers. 7, 1, 36.

    Research output: Contribution to journal › Review article › Academic › peer-review

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