ISBN 10: 9048190320 / ISBN 13: 9789048190324
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Brand New, Unread Copy in Perfect Condition. A+ Customer Service! Summary: 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. Buchnummer des Verkäufers

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Inhaltsangabe: 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.

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?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)

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Buchbeschreibung Springer, 2010. HRD. Buchzustand: New. New Book. Delivered from our US warehouse in 10 to 14 business days. THIS BOOK IS PRINTED ON DEMAND.Established seller since 2000. Buchnummer des Verkäufers IP-9789048190324

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Buchbeschreibung 2010. HRD. Buchzustand: New. New Book. Shipped from US within 10 to 14 business days. Established seller since 2000. Buchnummer des Verkäufers KS-9789048190324

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Buchbeschreibung Springer, 2010. Hardback. Buchzustand: NEW. 9789048190324 This listing is a new book, a title currently in-print which we order directly and immediately from the publisher. Buchnummer des Verkäufers HTANDREE0389353

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Buchbeschreibung Springer, 2010. HRD. Buchzustand: New. New Book.Shipped from US within 10 to 14 business days.THIS BOOK IS PRINTED ON DEMAND. Established seller since 2000. Buchnummer des Verkäufers IP-9789048190324

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Buchbeschreibung Springer, 2016. Paperback. Buchzustand: New. PRINT ON DEMAND Book; New; Publication Year 2016; Not Signed; Fast Shipping from the UK. No. book. Buchnummer des Verkäufers ria9789048190324_lsuk

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Buchbeschreibung Springer, Netherlands, 2010. Hardback. Buchzustand: New. 2010.. 234 x 156 mm. Language: English . Brand New 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. Buchnummer des Verkäufers AAS9789048190324

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Buchbeschreibung Springer, Netherlands, 2010. Hardback. Buchzustand: New. 2010.. 234 x 156 mm. Language: English . Brand New 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. Buchnummer des Verkäufers AAS9789048190324

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Buchbeschreibung Springer Netherlands 2010-08-12, Dordrecht |London, 2010. hardback. Buchzustand: New. Buchnummer des Verkäufers 9789048190324

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Buchbeschreibung Springer. Hardcover. Buchzustand: New. Hardcover. 512 pages. Dimensions: 9.2in. x 6.1in. x 1.4in.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. This item ships from multiple locations. Your book may arrive from Roseburg,OR, La Vergne,TN. Hardcover. Buchnummer des Verkäufers 9789048190324

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Buchbeschreibung Springer, 2010. Buchzustand: New. This item is printed on demand for shipment within 3 working days. Buchnummer des Verkäufers LP9789048190324

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