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Fabry Disease
. Ed(S): Elstein, Deborah; Altarescu, Gheona; Beck, Michael
€ 207.66
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Description for Fabry Disease
paperback. This is the first full-length textbook about Fabry disease. It covers pre-clinical studies, clinical findings, and management options. These are comprehensively presented for the medical practitioner as well as the interested non-medical reader. Editor(s): Elstein, Deborah; Altarescu, Gheona; Beck, Michael. Num Pages: 549 pages, biography. BIC Classification: MFGM; MFN. Category: (G) General (US: Trade). Dimension: 235 x 155 x 28. Weight in Grams: 836.
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 ... Read more
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 ... Read more
Product Details
Format
Paperback
Publication date
2014
Publisher
Springer Netherlands
Number of pages
549
Condition
New
Number of Pages
512
Place of Publication
Dordrecht, Netherlands
ISBN
9789400798847
SKU
V9789400798847
Shipping Time
Usually ships in 15 to 20 working days
Ref
99-15
Reviews for Fabry Disease
From the reviews: “As the first book dedicated to Fabry Disease, this provides an extensive, detailed review of all current information about this rare disorder. … The information presented here will serve genetics specialists in the evaluation, surveillance, and management of affected patients with this rare disorder. … It is also a well-written and informative tool for families affected ... Read more