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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked eleva...

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Bibliographic Details
Main Authors: Wolf, Nicole (Author) , Harting, Inga (Author) , Boltshauser, E. (Author) , Wiegand, G. (Author) , Koch, Martin Jean (Author) , Schmitt-Mechelke, T. (Author) , Martin, E. (Author) , Zschocke, Johannes (Author) , Uhlenberg, B. (Author) , Hoffmann, Georg F. (Author) , Weber, L. (Author) , Ebinger, Friedrich (Author) , Rating, Dietz (Author)
Format: Article (Journal)
Language:English
Published: April 25, 2005
In: Neurology
Year: 2005, Volume: 64, Issue: 8, Pages: 1461-1464
ISSN:1526-632X
DOI:10.1212/01.WNL.0000158615.56071.E3
Online Access:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1212/01.WNL.0000158615.56071.E3
Verlag, lizenzpflichtig, Volltext: https://n.neurology.org/content/64/8/1461
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Author Notes:N.I. Wolf, I. Harting, E. Boltshauser, G. Wiegand, M.J. Koch, T. Schmitt-Mechelke, E. Martin, J. Zschocke, B. Uhlenberg, G.F. Hoffmann, L. Weber, F. Ebinger, and D. Rating
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Summary:The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.
Item Description:Gesehen am 17.03.2021
Physical Description:Online Resource
ISSN:1526-632X
DOI:10.1212/01.WNL.0000158615.56071.E3

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