Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2011_78
Reference11 articles.
1. Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabas A, Pina MA, Calderon C (1999) Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 15:369–371
2. Autti T, Joensuu R, Aberg L (2007) Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology 49:571–578
3. Dietemann JL, Filippi de la Palavesa MM, Tranchant C, Kastler B (1990) MR findings in mannosidosis. Neuroradiology 32:485–487
4. Gregory A, Polster BJ, Hayflick SJ (2009) Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 46:73–80
5. Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM (2004) Adult alpha-mannosidosis: clinical progression in the absence of demyelination. Neurology 63:1744–1746
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