1. 2019
  2. Neuroblastoma stage 4S: Tumor regression rate and risk factors of progressive disease

    Tas, M. L., Nagtegaal, M., Kraal, K. C. J. M., Tytgat, G. A. M., Abeling, N. G. G. M., Pluijm, S. M. F., Zwaan, C. M., de Keizer, B., Molenaar, J. J. & van Noesel, M. M., 2019, In : Pediatric blood & cancer. e28061.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 2018
  4. 3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients

    Verly, I. R. N., van Kuilenburg, A. B. P., Abeling, N. G. G. M., Goorden, S. M. I., Fiocco, M., Vaz, F. M., van Noesel, M. M., Zwaan, C. M., Kaspers, G. J. L., Merks, J. H. M., Caron, H. N. & Tytgat, G. A. M., 2018, In : European journal of cancer (Oxford, England. 90, p. 102-110

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 2017
  6. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

    Verly, I. R. N., van Kuilenburg, A. B. P., Abeling, N. G. G. M., Goorden, S. M. I., Fiocco, M., Vaz, F. M., van Noesel, M. M., Zwaan, C. M., Kaspers, G. L., Merks, J. H. M., Caron, H. N. & Tytgat, G. A. M., 2017, In : European journal of cancer (Oxford, England. 72, p. 235-243

    Research output: Contribution to journalArticleAcademicpeer-review

  7. Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

    Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., Nieman, D. H., Bosch, A. M., Bour, L. J., Bakermans, A. J., Abeling, N. G. G. M., Bassett, A. S., van Amelsvoort, T. A. M. J., van Spronsen, F. J. & Booij, J., 2017, In : Psychological medicine. 47, 16, p. 2854-2865

    Research output: Contribution to journalArticleAcademicpeer-review

  8. 2016
  9. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

    Jaeger, B., Abeling, N. G., Salomons, G. S., Struys, E. A., Simas-Mendes, M., Geukers, V. G. & Poll-The, B. T., 2016, In : Molecular genetics and metabolism reports. 6, p. 60-63

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2015
  11. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly

    Lee, J. H., van Kuilenburg, A. B. P., Abeling, N. G. G. M., Vasta, V. & Hahn, S. H., 2015, In : JIMD reports. 19, p. 117-121

    Research output: Contribution to journalArticleAcademicpeer-review

  12. Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

    Leuzzi, V., Mastrangelo, M., Polizzi, A., Artiola, C., van Kuilenburg, A. B. P., Carducci, C., Ruggieri, M., Barone, R., Tavazzi, B., Abeling, N. G. G. M., Zoetekouw, L., Sofia, V., Zappia, M. & Carducci, C., 2015, In : JIMD reports. 15, p. 39-45

    Research output: Contribution to journalArticleAcademicpeer-review

  13. 2014
  14. Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

    Nakajima, Y., Meijer, J., Dobritzsch, D., Ito, T., Meinsma, R., Abeling, N. G. G. M., Roelofsen, J., Zoetekouw, L., Watanabe, Y., Tashiro, K., Lee, T., Takeshima, Y., Mitsubuchi, H., Yoneyama, A., Ohta, K., Eto, K., Saito, K., Kuhara, T. & van Kuilenburg, A. B. P., 2014, In : Journal of inherited metabolic disease. 37, 5, p. 801-812

    Research output: Contribution to journalArticleAcademicpeer-review

  15. Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

    Nakajima, Y., Meijer, J., Dobritzsch, D., Ito, T., Meinsma, R., Abeling, N. G. G. M., Roelofsen, J., Zoetekouw, L., Watanabe, Y., Tashiro, K., Lee, T., Takeshima, Y., Mitsubuchi, H., Yoneyama, A., Ohta, K., Eto, K., Saito, K., Kuhara, T. & van Kuilenburg, A. B. P., 2014, In : Journal of inherited metabolic disease. 37, 6, p. 1023

    Research output: Contribution to journalErratum/CorrigendumAcademic

  16. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

    de Roo, M. G. A., Abeling, N. G. G. M., Majoie, C. B., Bosch, A. M., Koelman, J. H. T. M., Cobben, J. M., Duran, M. & Poll-The, B. T., 2014, In : Molecular genetics and metabolism. 111, 3, p. 404-407

    Research output: Contribution to journalArticleAcademicpeer-review

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