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Updated: Jun 28, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease)]
Abstract:
A history of the discovery, hypotheses of the pathogenesis, neuromorphologic data, clinical appearances, differential diagnostics and an own description of a single case of rare hereditary children leukoencephalopathy, with megalencephaly, changes of myelin structure and formation of subcortical cysts are presented. Taking into account non-specific clinical appearances of this disease and difficulties of genetic analysis, a priority role of MRI-diagnostics revealing typical signs of the disease is emphasized.
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