Fabry Disease - 9789048190324
  • Fabry Disease - 9789048190324

Fabry Disease - 9789048190324

New: A new, unread, unused book in perfect condition with no missing or damaged pages. See the ... Read moreabout the conditionNew: A new, unread, unused book in perfect condition with no missing or damaged pages. See the seller's listing for full details. See all condition definitionsopens in a new window or tab
€270.01
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Quantity
10 Items

Description
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-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Product Details
10 Items

Data sheet

Type
Textbook
Author
Michael Beck, Gheona Altarescu, Deborah Elstein
Format
Hardcover
Language
English
Item Height
235mm
Item Width
155mm
Number of Pages
512 Pages
Item Weight
1087g
Publisher
Springer
Publication Year
2010

Specific References

ISBN
9789048190324
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