CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

Mucolipidosis type II (MLII), an ultra-rare lysosomal storage disorder, manifests as a fatal multi-systemic disease. Mental inhibition and progressive neurodegeneration are commonly reported disease manifestations. Nevertheless, longitudinal data on neurocognitive testing and neuroimaging lack in cu...

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Bibliographic Details
Main Authors: Luise Sophie Ammer, Karolin Täuber, Anna Perez, Thorsten Dohrmann, Jonas Denecke, René Santer, Ulrike Blümlein, Ann-Kathrin Ozga, Sandra Pohl, Nicole Maria Muschol
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Journal of Clinical Medicine
Subjects:
mucolipidosis
ML
MLII
natural history
neurocognition
adaptive behaviour
Online Access:https://www.mdpi.com/2077-0383/12/12/4114

Internet

https://www.mdpi.com/2077-0383/12/12/4114

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