Annet Bosch

DR.

20182019

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2019

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Lund, A. M., Rizopoulos, D., Kölker, S., Williams, M., Hörster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C. & 49 others, Baumgartner, M. R., Häberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Cazorla, A. G., Saladelafont, E. C. I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, W-L., Chien, Y-H., Lee, N-C., Karall, D., Scholl-Bürgi, S., de Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Additional individual contributors from E-IMD, Wijburg, F. A., Vara, R., Vives Piñera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M-C. & Barić, I., 1 Apr 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 397-405 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Barić, I., Lund, A. M., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 1 Nov 2019, In : Journal of Inherited Metabolic Disease. 42, 6, p. 1162-1175 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A. & 4 others, van Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Kuiper, A., Grünewald, S., Murphy, E., Coenen, M. A., Eggink, H., Zutt, R., Rubio-Gozalbo, M. E., Bosch, A. M., Williams, M., Derks, T. G. J., Lachmann, R. H. L., Brouwers, M. C. G. J., Janssen, M. C. H., Tijssen, M. A. & de Koning, T. J., 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 451-458

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

van Rijt, W. J., Ferdinandusse, S., Giannopoulos, P., Ruiter, J. P. N., de Boer, L., Bosch, A. M., Huidekoper, H. H., Rubio-Gozalbo, M. E., Visser, G., Williams, M., Wanders, R. J. A. & Derks, T. G. J., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 878-889

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 1-10 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Research activity and capability in the European reference network MetabERN

Heard, J-M., Bellettato, C., van Lingen, C., Scarpa, M., Debray, F-G., Nassogne, M-C. C., van Coster, R., de Meirleir, L., Eyskens, F., Morava, E., Baric, I., Kozich, V., Lund, A. M., Germain, D., Belmatoug, N., Guffon, N., Labrune, P., Gouya, L., de Lonlay, P., Schiff, M. & 48 others, Dobbelaere, D., Chabrol, B., Das, A. M., Spiekerkoetter, U., Rutsch, F., Ploeckinger, U., Mohnike, K., Hahn, A., Kölker, S., Ullrich, K., Balogh, I., Bembi, B., Donati, M. A., Gasperini, S., Parenti, G., Salviati, A., Vici, C-D., di Rocco, M., Cefalo, G., Burlina, A., Ceccarini, G., Federico, A., van der Ploeg, A., Rubio-Gozalbo, M-E., van Spronsen, F., Visser, G., Bosch, A., Tangeraas, T., Sanderberg, S., Kieć-Wilk, B., Gaspar, A-M. S. M., Martins, E., Silva, E-M. F. R., de Abreu Freire Diogo Matos, L-M., Azevedo, O., Tansek, M-Z., Couce-Pico, M-L., Cazorla, A. G., Azuara, L. A-E., del Toro-Riera, M., Lajic, S., Darin, N., Deegan, P., Vijaym, S., Chronopoulou, E., Jones, S., Chakrapani, A. & Hiwot, T., 29 May 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 119.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Haijes, H. A., Molema, F., Langeveld, M., Janssen, M. C., Bosch, A. M., van Spronsen, F., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J. M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., de Vries, M. C., Langendonk, J. G., Williams, M. & van Hasselt, P. M., 1 Jan 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The natural history of classic galactosemia: Lessons from the GalNet registry

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I. & 23 others, Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P. & Berry, G. T., 27 Apr 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 86.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Posset, R., Garbade, S. F., Boy, N., Burlina, A. B., Dionisi-Vici, C., Dobbelaere, D., Garcia-Cazorla, A., de Lonlay, P., Teles, E. L., Vara, R., Mew, N. A., Batshaw, M. L., Baumgartner, M. R., McCandless, S. E., Seminara, J., Summar, M., Hoffmann, G. F., Kölker, S., Burgard, P., Additional individual contributors of the UCDC and the E-IMD consortium & 1 others, Zeman, J., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 93-106

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Stroek, K., Bouva, M. J., Schielen, P. C. J. I., Vaz, F. M., Heijboer, A. C., de Jonge, R., Boelen, A. & Bosch, A. M., 2018, In : Molecular Genetics and Metabolism. 124, 1, p. 50-56

Research output: Contribution to journalArticleAcademicpeer-review