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  • Fabry disease [Elektronski vir]
    Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological ... disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-
    Type of material - e-book
    Publication and manufacture - Dordrecht ; London : Springer, 2010
    Language - english
    ISBN - 978-90-481-9033-1; 90-481-9033-9
    COBISS.SI-ID - 1542876639

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