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Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease. Blood Cells, Molecules, and Diseases. 2005 Sep;35(2):253–8. doi: 10.1016/j.bcmd.2005.04.007. |