Fabry Disease / Andreas Gal (auth.), Deborah Elstein, Gheona Altarescu, Michael Beck (eds.)
Publication year: 2010
: 978-90-481-9033-1
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids.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.
: Diseases, Blood vessel, Bone, Cells, Endothelium, Genetics, Smooth muscle, Metabolic disease, Medical Genetics
