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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-bookPublication and manufacture - Dordrecht ; London : Springer, 2010Language - englishISBN - 978-90-481-9033-1; 90-481-9033-9COBISS.SI-ID - 1542876639
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SpringerLink e-books 2008-2012Celotno besedilo dostopno za uporabnike SpringerLink slovenskega konzorcija neprofitnih institucij
Full text accessible to the users of SpringerLink Slovenian Consortium of Non-Profit Institutions
DOI
Other authors
Elstein, Deborah |
Altarescu, Gheona |
Beck, Michael
Topics
Proteins |
Metabolism |
Disorders |
Lysosomal storage diseases |
Fabry Disease |
Lysosomal Storage Diseases |
Lysosomes |
metabolism |
Lysosomal storage diseases |
Pathogenesis |
Lysosomal storage diseases |
Treatment |
Medicine |
MEDICAL |
Endocrinology & Metabolism |
MEDICAL |
Nutrition |
Médecine |
Lysosomal storage diseases |
Proteins |
Metabolism |
Disorders |
Electronic books
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