Search Results - "Ebbink, Berendine J"
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Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain
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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Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge
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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Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
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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Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome
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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Neuropsychological profile of long-term treated patients with classic infantile Pompe disease
Published in Molecular genetics and metabolism (01-01-2017)Get full text
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Cognitive decline in classic infantile Pompe disease, an underacknowledged challenge
Published in Molecular genetics and metabolism (01-02-2016)Get full text
Journal Article