Search Results - "Ebbink, Berendine J"

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  1. 1

    Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain by Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, Beek, Nadine A M E, Lequin, Maarten H, Ploeg, Ans T, Hout, Johanna M P

    Published in Developmental medicine and child neurology (01-06-2018)
    “…Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement…”
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    Journal Article
  2. 2

    Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge by Ebbink, Berendine J, Poelman, Esther, Plug, Iris, Lequin, Maarten H, van Doorn, Pieter A, Aarsen, Femke K, van der Ploeg, Ans T, van den Hout, Johanna M.P

    Published in Neurology (29-03-2016)
    “…Classic infantile Pompe disease is a progressive lysosomal glycogen storage disorder, which, if untreated, leads to severe skeletal muscle weakness, inability…”
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    Journal Article
  3. 3

    Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II? by Vollebregt, Audrey A. M., Ebbink, Berendine J., Rizopoulos, Dimitris, Lequin, Maarten H., Aarsen, Femke K., Shapiro, Elsa G., Ploeg, Ans T., Hout, Johanna M. P.

    Published in Journal of inherited metabolic disease (01-05-2021)
    “…Objective To advance the prediction of the neurocognitive development in MPS II patients by jointly analyzing MRI and neurocognitive data in…”
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    Journal Article
  4. 4

    Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome by Ebbink, Berendine J., Brands, Marion M. G., van den Hout, Johanna M. P., Lequin, Maarten H., van den Braak, Robert R. J. Coebergh, van de Weitgraven, Rianne L., Plug, Iris, Aarsen, Femke K., van der Ploeg, Ans T.

    Published in Journal of inherited metabolic disease (01-03-2016)
    “…Background It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme…”
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    Journal Article
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