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10.1016/j.ymgme.2015.01.006

http://scihub22266oqcxt.onion/10.1016/j.ymgme.2015.01.006
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suck abstract from ncbi


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pmid25649058      Mol+Genet+Metab 2015 ; 114 (4): 494-500
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  • Case Definition and Classification of Leukodystrophies and Leukoencephalopathies #MMPMID25649058
  • Vanderver A; Prust M; Tonduti D; Mochel F; Hussey HM; Helman G; Garbern J; Eichler F; Labauge P; Aubourg P; Rodriguez D; Patterson MC; Van Hove JL; Schmidt J; Wolf NI; Boespflug-Tanguy O; Schiffmann R; van der Knaap MS
  • Mol Genet Metab 2015[Apr]; 114 (4): 494-500 PMID25649058show ga
  • Objective: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health. Method: Thirteen experts at multiple institutions participated in iterative consensus building surveys to achieve definition and classification of disorders as leukodystrophies using a modified Delphi approach. Results: A case definition for the leukodystrophies was achieved, and a total of 30 disorders were classified under this definition. In addition, a separate set of disorders with heritable white matter abnormalities but not meeting criteria for leukodystrophy, due to presumed primary neuronal involvement and prominent systemic manifestations, was classified as genetic leukoencephalopathies (gLE). Interpretation: A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders.
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