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ISBN: 1634847687 9781634847681 9781634846615 1634846613 Year: 2016 Publisher: New York
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ISBN: 1282757911 9786612757914 9814271322 9789814271325 9781282757912 6612757914 9789814271318 9814271314 Year: 2010 Publisher: Singapore Hackensack, N.J. World Scientific
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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.
Book
ISBN: 9780323958592 0323958591 0323994172 Year: 2024 Publisher: San Diego : Elsevier Science & Technology,
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This book, edited by Gregory M. Pastores, serves as a comprehensive guide on neurogenetics for practitioners. It covers a wide range of topics including the molecular genetic mechanisms of diseases, techniques for genetic diagnosis, genetic counseling, metabolomics, and the genomics of psychiatric disorders. The book is designed to provide a detailed understanding of genetic factors in various neurological conditions, with practical information for clinical application. Intended for medical professionals and researchers, it aims to update readers on the latest advancements and methodologies in the field of neurogenetics.
Neurogenetics. --- Medical genetics. --- Neurogenetics --- Medical genetics
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