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  1. 2019

  2. The need for additional care in patients with classical galactosaemia

    Welling, L., Meester-Delver, A., Derks, T. G., Janssen, M. C. H., Hollak, C. E. M., de Vries, M. & Bosch, A. M., 2019, In: Disability and rehabilitation. 41, 22, p. 2663-2668

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

  3. 2018

  4. Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

    van Weeghel, M., Welling, L., Treacy, E. P., Wanders, R. J. A., Ferdinandusse, S. & Bosch, A. M., 2018, In: Orphanet journal of rare diseases. 13, 1, 146.

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

  5. 2017

  6. Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

    van Erven, B., Welling, L., van Calcar, S. C., Doulgeraki, A., Eyskens, F., Gribben, J., Treacy, E. P., Vos, R., Waisbren, S. E., Rubio-Gozalbo, M. E. & Bosch, A. M., 2017, In: JIMD reports. 35, p. 87-96

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

  7. Classical galactosemia: A cloud with a silver lining

    Welling, L., 2017, 218 p.

    Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

  8. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

    Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Gautschi, M., Grünewald, S., Gubbels, C. S., Knerr, I., Labrune, P., van der Lee, J. H., MacDonald, A., Murphy, E., Portnoi, P. A., Õunap, K., Potter, N. L., Rubio-Gozalbo, M. E., Spencer, J. B., Timmers, I., Treacy, E. P., & 3 othersvan Calcar, S. C., Waisbren, S. E. & Bosch, A. M., 2017, In: Journal of inherited metabolic disease. 40, 2, p. 171-176

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

  9. Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

    Welling, L., Boelen, A., Derks, T. G. J., Schielen, P. C. J. I., de Vries, M., Williams, M., Wijburg, F. A. & Bosch, A. M., 2017, In: Molecular genetics and metabolism. 120, 3, p. 223-228

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

  10. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia

    Welling, L., Waisbren, S. E., Antshel, K. M., Colhoun, H-O., Gautschi, M., Grünewald, S., Holman, R., van der Lee, J. H., Treacy, E. P. & Bosch, A. M., 2017, In: JIMD reports. 37, p. 115-123

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

  11. 2015

  12. Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

    Welling, L., Marchal, J. P., van Hasselt, P., van der Ploeg, A. T., Wijburg, F. A. & Boelens, J. J., 2015, In: JIMD reports. 18, p. 63-68

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

ID: 104934