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:
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:
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:
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.
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:
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:
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.
Download or read book Lysosomal Storage Disorders written by John A. Barranger and published by Springer. This book was released on 2007-10-01 with total page 0 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.
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:
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.
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:
Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2012-09-06 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
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.
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.
Download or read book Improving Enzyme Replacement Therapy for Lysosomal Storage Diseases written by Nathalie Rigal and published by . This book was released on 2018 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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:
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.
