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Author :
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (111 download)
Download or read book Enzyme-Replacement Therapies for Lysosomal Storage Diseases written by and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Workshop on Cell Biological and Enzymological Aspects of the Therapy of Lysosomal Storage Diseases, Leyden, 1974
Publisher :
ISBN 13 : 9780444107244
Total Pages : 308 pages
Book Rating : 4.1/5 (72 download)
Download or read book Enzyme therapy in lysosomal storage diseases: proceedings for the Workshop on Cell Biological and Enzymological Aspects of the Therapy of Lysosomal Storage Diseases, Leiden written by Workshop on Cell Biological and Enzymological Aspects of the Therapy of Lysosomal Storage Diseases, Leyden, 1974 and published by . This book was released on with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Joseph Michel Tager
Publisher :
ISBN 13 :
Total Pages : 332 pages
Book Rating : 4.3/5 (91 download)
Download or read book Enzyme Therapy in Lysosomal Storage Diseases written by Joseph Michel Tager and published by . This book was released on 1974 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : J. M. Tager
Publisher :
ISBN 13 : 9780444107244
Total Pages : 308 pages
Book Rating : 4.1/5 (72 download)
Download or read book Enzyme Therapy in Lysosomal Storage Diseases written by J. M. Tager and published by . This book was released on 1974 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : John A. Barranger
Publisher : Springer Science & Business Media
ISBN 13 : 0387709096
Total Pages : 563 pages
Book Rating : 4.3/5 (877 download)
Download or read book Lysosomal Storage Disorders written by John A. Barranger and published by Springer Science & Business Media. This book was released on 2007-10-16 with total page 563 pages. Available in PDF, EPUB and Kindle. Book excerpt: The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.
Author : Jaap Jan Boelens
Publisher : Springer Science & Business Media
ISBN 13 : 1461483573
Total Pages : 178 pages
Book Rating : 4.4/5 (614 download)
Download or read book Stem Cell Therapy in Lysosomal Storage Diseases written by Jaap Jan Boelens and published by Springer Science & Business Media. This book was released on 2013-10-10 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stem Cell therapy for lysosomal diseases (LSDs) is developing rapidly. This volume discusses the history, current practice and future perspectives of stem cells in inborn errors of metabolism (IEM) and provides an international perspective on progress, limitations, and future directions (e.g. gene therapy, iPS, ES) in the field. Beginning with an overview of these diseases, the book covers the breadth of this topic from treatment options, bone marrow transplantation, and alternative treatment options, through long-term outcomes and future perspectives.
Author : J. M. Tager
Publisher :
ISBN 13 :
Total Pages : 308 pages
Book Rating : 4.:/5 (93 download)
Download or read book Enzyme Therapy in Lysosomal Storage Diseases written by J. M. Tager and published by . This book was released on 1974 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : J. M. Tager
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (5 download)
Download or read book Enzyme Therapy in Lysosomal Storage Diseases Proceedings of the Workshop on Cell Biological and Enzymological Aspects of the Therapy of Lysosomal Storage Diseases Leiden The Netherlands April 2-3, 1974 written by J. M. Tager and published by . This book was released on 1974 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Vassili Valayannopoulos
Publisher : Elsevier Inc. Chapters
ISBN 13 : 0128084561
Total Pages : 22 pages
Book Rating : 4.1/5 (28 download)
Download or read book Pediatric Neurology Part III written by Vassili Valayannopoulos and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 22 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage diseases (LSD) are inborn errors of metabolism secondary to lysosomal enzyme defects and are characterized by a progressive accumulation of nondigested macromolecules provoking cellular dysfunction and clinical manifestations. The diagnosis of these diseases can be confirmed easily in most cases by immuno-enzymatic techniques and molecular biology. Even though these enzymatic deficits result in an accumulation of pathological substrates, the underlying mechanisms responsible for the pathogenesis of the disease are not entirely known. Nevertheless, the distribution of the accumulated material determines the affected organs. More particularly in the central nervous system (CNS), neurons are often involved due to the accumulation of storage material and their incapacity of renewal. LSD can be responsible for mental retardation or for a neurodegenerative course in the central nervous system. The peripheral nervous system and the muscle can also be severely impaired. Hematopoietic stem cell transplantation was the first therapy, demonstrating efficacy especially on the neurological involvement of various LSD. Enzyme replacement therapy is now available for Gaucher disease, Fabry disease, mucopolysaccharidoses type I, type II, and type VI, and Pompe disease. Inhibition of the synthesis of the accumulated substrate by small molecules which also have the capacity to diffuse through the blood–brain barrier is another treatment option. New therapeutic strategies using the properties of molecular chaperones and of read-through molecules for nonsense mutations have been studied in vitro and hopefully will soon find clinical applications while intrathecal enzymes are currently studies in clinical trials for MPSII, MPS IIIA and MLD.
Author :
Publisher :
ISBN 13 :
Total Pages : 308 pages
Book Rating : 4.:/5 (963 download)
Download or read book Enzyme Therapy in Lysosomal Storage Diseases written by and published by . This book was released on 1974 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Gregory M. Pastores
Publisher : World Scientific
ISBN 13 : 9814271322
Total Pages : 179 pages
Book Rating : 4.8/5 (142 download)
Download or read book Lysosomal Storage Disorders written by Gregory M. Pastores and published by World Scientific. This book was released on 2010 with total page 179 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. Sample Chapter(s). Foreword (34 KB). Chapter 1: Introduction (1,266 KB). Contents: 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. Readership: Graduate medical students, nurses, genetic counselors and physicians.
Author : Deborah Elstein
Publisher : Springer Science & Business Media
ISBN 13 : 9048190339
Total Pages : 525 pages
Book Rating : 4.0/5 (481 download)
Download or read book Fabry Disease written by Deborah Elstein and published by Springer Science & Business Media. This book was released on 2010-08-02 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Peter Grunwald
Publisher : Jenny Stanford Series on Biocatalysis
ISBN 13 : 9789814877138
Total Pages : 500 pages
Book Rating : 4.8/5 (771 download)
Download or read book Pharmaceutical Biocatalysis written by Peter Grunwald and published by Jenny Stanford Series on Biocatalysis. This book was released on 2020-07-31 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume of Pharmaceutical Biocatalysis starts with a discussion on the importance of biocatalytic synthesis approaches for a sustainable and environmentally friendly production of pharmaceuticals and active pharmaceutical ingredients. Among the enzymes discussed in detail with respect to their pharmaceutical relevance are cyclic nucleotide phosphodiesterases playing an important role in modulating signal transduction in various cell types; human DOPA decarboxylase, related to Parkinson's disease and aromatic amino acid decarboxylase deficiency; and phospholipase D enzymes as drug targets. Isocitrate dehydrogenase 1 and 2 mutations are novel therapeutic targets in acute myeloid leukemia. An additional chapter is devoted to the use of enzymes for prodrug activation in cancer therapy. The other topics include small-molecule inhibitors targeting receptor tyrosine kinases in cancer, β-Lactams and related compounds as antibacterials, non-vitamin K oral anticoagulants for the treatment of thromboembolic diseases, and the molecular mechanisms for statin pleiotropy and its clinical relevance in cardiovascular diseases. The last chapter is a review of lysosomal storage disorders with an overview of approved drugs for treating these disorders by enzyme replacement therapy.
Author : Frederick J. Suchy
Publisher : Cambridge University Press
ISBN 13 : 1108911374
Total Pages : 875 pages
Book Rating : 4.1/5 (89 download)
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Author : Steven U. Walkley
Publisher :
ISBN 13 :
Total Pages : 496 pages
Book Rating : 4.3/5 (91 download)
Download or read book Lysosomal Disorders of the Brain written by Steven U. Walkley and published by . This book was released on 2004 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent yearsconsiderable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to thedevelopment of therapeutic strategies for their treatment. Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, thebook describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understandthe role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available.
Author :
Publisher :
ISBN 13 :
Total Pages : 20 pages
Book Rating : 4.:/5 (319 download)
Download or read book The Mucopolysaccharidoses written by and published by . This book was released on 2003 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Joseph Michael Tager
Publisher :
ISBN 13 :
Total Pages : 308 pages
Book Rating : 4.:/5 (64 download)
Download or read book Enzyme Therapy in Lysosomal Storage Diseases written by Joseph Michael Tager and published by . This book was released on 1974 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt:
