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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.

Lysosomal storage diseases. --- Lysosomal storage diseases --- Treatment.

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Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life.

Lysosomal storage diseases.

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Lysosomal storage diseases. --- Genetic disorders.

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Lysosomes --- Metabolism, Inborn Errors --- Lysosomal Storage Diseases

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Brain --- Brain --- Lysosomal storage disorders --- Lysosomal storage disorders --- Lysosomal Storage Diseases, Nervous System --- Lysosomal Storage Diseases, Nervous System