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Lysosomal storage disorders : principles and practice /

This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiolog...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Pastores, Gregory M.
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Singapore ; Hackensack, N.J. : World Scientific, ©2010.
Temas:
Acceso en línea:Texto completo

MARC

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245 1 0 |a Lysosomal storage disorders :  |b principles and practice /  |c Gregory M. Pastores. 
260 |a Singapore ;  |a Hackensack, N.J. :  |b World Scientific,  |c ©2010. 
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504 |a Includes bibliographical references and indexes. 
505 0 |a Introduction -- Clinical perspectives -- Diagnostic confirmation and screening protocols -- Assessment of disease burden and assignment of disease severity -- Pathophysiology and biomarkers -- Current and emerging therapies -- Future prospects. 
520 |a This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development of therapeutic guidelines. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive picture of relevant topics on this subject. A multi-faceted volume, the author addresses the issue of diagnosis and patient management, underlying mechanisms of disease, sources of morbidity and treatment options, covering issues of interest to both the basic scientist and the clinician. 
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650 0 |a Lysosomal storage diseases  |x Treatment. 
650 1 2 |a Lysosomal Storage Diseases 
650 6 |a Maladies lysosomiales congénitales. 
650 6 |a Maladies lysosomiales congénitales  |x Traitement. 
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