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  1. 2021

  2. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

    Fallatah, W., Schouten, M., Yergeau, C., di Pietro, E., Engelen, M., Waterham, H. R., Poll-The, B. T. & Braverman, N., Jul 2021, In: Journal of inherited metabolic disease. 44, 4, p. 1021-1038 18 p.

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

  3. Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia

    van Dijk, T., Barth, P., Baas, F., Reneman, L. & Poll-The, B. T., 1 Jun 2021, In: Neuropediatrics. 52, 3, p. 163-169 7 p.

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

  4. 2020

  5. Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

    Hoytema van Konijnenburg, E. M. M., Luirink, I. K., Schagen, S. E. E., Engelen, M., Berendse, K., Poll-The, B. T. & Chegary, M., Jun 2020, In: Molecular genetics and metabolism reports. 23, 100590.

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

  6. Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

    van Ballegoij, W. J. C., Kuijpers, S. C., Huffnagel, I. C., Weinstein, H. C., Poll-The, B. T., Engelen, M., Bennebroek, C. A. M. & Verbraak, F. D., 1 Mar 2020, In: Journal of neurology. 267, 3, p. 679–687 9 p.

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

  7. Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

    Duker, A. L., Niiler, T., Kinderman, D., Schouten, M., Poll-The, B. T., Braverman, N. & Bober, M. B., 1 Mar 2020, In: American journal of medical genetics. Part A. 182, 3, p. 579-583 5 p.

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  8. 2019

  9. Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder

    Berendse, K., Boek, M., Gijbels, M., van der Wel, N. N., Klouwer, F. C., van den Bergh-Weerman, M. A., Shinde, A. B., Ofman, R., Poll-The, B. T., Houten, S. M., Baes, M., Wanders, R. J. A. & Waterham, H. R., 1 Oct 2019, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1865, 10, p. 2774-2787

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

  10. Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

    Berendse, K., Koot, B. G. P., Klouwer, F. C. C., Engelen, M., Roels, F., Lacle, M. M., Nikkels, P. G. J., Verheij, J. & Poll-The, B. T., 11 Sep 2019, In: Journal of inherited metabolic disease. 42, 5, p. 955-965

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

  11. Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury (Brain Imaging and Behavior, (2018), 12, 1, (29-43), 10.1007/s11682-017-9673-3)

    Königs, M., Pouwels, P. J., Ernest van Heurn, L., Bakx, R., Jeroen Vermeulen, R., Goslings, J., Poll-The, B. T., van der Wees, M., Catsman-Berrevoets, C. E. & Oosterlaan, J., Aug 2019, In: Brain imaging and behavior. 13, 4, p. 1183

    Research output: Contribution to journal › Erratum/Corrigendum › Academic

  12. Disease progression in women with X-linked adrenoleukodystrophy is slow

    Huffnagel, I. C., Dijkgraaf, M. G. W., Janssens, G. E., van Weeghel, M., van Geel, B. M., Poll-The, B. T., Kemp, S. & Engelen, M., 2019, In: Orphanet journal of rare diseases. 14, 1, p. 30 30.

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

  13. The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

    Klouwer, F. C. C., Koot, B. G. P., Berendse, K., Kemper, E. M., Ferdinandusse, S., Koelfat, K. V. K., Lenicek, M., Vaz, F. M., Engelen, M., Jansen, P. L. M., Wanders, R. J. A., Waterham, H. R., Schaap, F. G. & Poll-The, B. T., 2019, In: Journal of inherited metabolic disease. 42, 2, p. 303-312

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

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