Fabry Disease

Editors: Elstein, Deborah, Altarescu, Gheona, Beck, Michael (Eds.)

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  • The first full-length textbook about Fabry disease
  • Includes chapters on the therapeutic management options
  • Complete and state-of-the-art range of pre-clinical studies
  • Comprehensive chapters on clinical findings
  • All authors are experts with many years of clinical and research experience
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eBook $219.00
price for USA in USD (gross)
  • ISBN 978-90-481-9033-1
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $279.99
price for USA in USD
  • ISBN 978-90-481-9032-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $279.99
price for USA in USD
  • ISBN 978-94-007-9884-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
About this book

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.

Reviews

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 by this disorder, helping them understand its natural course and available treatment. … This highly specialized, unique book on this rare disorder has no comparison.” (Luis F. Escobar, Doody’s Review Service, March, 2012)

Table of contents (32 chapters)

Table of contents (32 chapters)

Buy this book

eBook $219.00
price for USA in USD (gross)
  • ISBN 978-90-481-9033-1
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $279.99
price for USA in USD
  • ISBN 978-90-481-9032-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $279.99
price for USA in USD
  • ISBN 978-94-007-9884-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Fabry Disease
Editors
  • Deborah Elstein
  • Gheona Altarescu
  • Michael Beck
Copyright
2010
Publisher
Springer Netherlands
Copyright Holder
Springer Science+Business Media B.V.
eBook ISBN
978-90-481-9033-1
DOI
10.1007/978-90-481-9033-1
Hardcover ISBN
978-90-481-9032-4
Softcover ISBN
978-94-007-9884-7
Edition Number
1
Number of Pages
XXXVII, 512
Topics