Download or read book Frontiers in Lysosomal Storage Diseases LSD Treatments written by Lunawati Bennett and published by . This book was released on 2023-04-20 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive collection of more than 50 inherited metabolic lysosomal disorders which aims to provide the most up to date literature sources oriented toward improving our understanding of rare diseases to meet the diverse needs of scientists, physicians, pharmacists, nurses, and other health care professionals with an interest in serving patients with diseases such as Gaucher, Fabry, Pompe, and others. The book is divided into 24 chapters. Chapter 1 is an introduction about LSDs, a group of rare diseases due to deficiency in lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Chapter 1 discussed the function of lysosomes, methods to differentiate lysosome dysfunctions, and current therapeutic approaches including Hematopoietic Stem Cells Transplantation (HSCT), Enzyme Replacement Therapy (ERT), Substrate Reduction Therapy (SRT), Pharmacologic Chaperone Therapy (PCT), and Gene Therapy. Chapter 1 provides a list of different LSDs based on their name, clinical name, gene being affected, enzyme or protein deficiency, primary storage accumulation, and major organs being affected. From Chapter 2 to Chapter 24, information about the diseases, characteristics, diagnosis, pathophysiology of the disease, current and future treatment options from reputable books, journals, monographs, clinical trials, and other resources were used to provide up-to-date medical information on these devastating diseases. New drugs in the pipeline such as Gene Therapy or Gene Editing Therapy, if applicable, are also discussed in the book. Within the last 20 years, the FDA has designated more than 100 compounds as Orphan Drugs to treat LSD, although not all drugs make it into clinical trials. This is an exciting time for us to learn about these rare metabolic disorders as more information has become available.

Download or read book Introduction to Biological and Small Molecule Drug Research and Development written by Charles W. Richard and published by Elsevier Inc. Chapters. This book was released on 2013-05-07 with total page 25 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage disorders (LSDs) represent a group of about 50 genetic disorders caused by deficiencies of lysosomal proteins. The missing lysosomal protein causes a build-up of toxic metabolites in the cells of patients, leading to progressive multisystem disease and premature death. Although individually rare, the combined prevalence of all lysosomal disorders is estimated to be 1 in 8000 births. This chapter describes progress in several different LSD treatment modalities including enzyme replacement therapy, haematopoietic stem cell therapy, chaperone (enzyme stabilization) therapy, and substrate reductions therapy, and highlights new treatment directions for the future.

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 Lysosomal Storage Diseases written by Rossella Parini and published by John Libbey Eurotext. This book was released on 2010 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if adminis-tered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialised centre is emphasised in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.

Download or read book Frontiers in Gynecologic and Obstetric Investigation written by A.R. Genazzani and published by CRC Press. This book was released on 1993-01-15 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides a review of the recent advances that have been made in gynaecological and obstetric investigation and considers their clinical applications as well as their diagnostic and therapeutic implications.

Download or read book Genetics of Inborn Errors of Metabolism written by Elsayed Abdelkreem and published by Frontiers Media SA. This book was released on 2023-10-27 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Deciphering the landscape of immunohematology Enhancing our understanding and management of hematological disorders through advances in immunology and genetics written by Shanmuganathan Chandrakasan and published by Frontiers Media SA. This book was released on 2023-07-06 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Gene Therapy in the CNS Progress and Prospects for Novel Therapies written by Casper René Gøtzsche and published by Frontiers Media SA. This book was released on 2021-12-21 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Bringing Advanced Therapy Medicinal Products ATMPs to the Clinic and Beyond How to Ensure the Sustainable and Affordable Introduction of ATMPs Into Healthcare written by Hans-Dieter Volk and published by Frontiers Media SA. This book was released on 2022-11-30 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Autophagy in Endocrine metabolic Diseases Associated with Aging written by Maria Ines Vaccaro and published by Frontiers Media SA. This book was released on 2020-12-11 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Download or read book Immunogenicity of Proteins Used as Therapeutics written by Amy Rosenberg and published by Frontiers Media SA. This book was released on 2020-12-28 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: Topic Editor Susan Richards is an employee of Sanofi and owns stock in the corporation. Topic Editor Bernard Maillere declares economic support from pharmaceutical companies (Novartis, Sanofi, and UCB) in the frame of collaborations aiming to evaluate the recognition by human T cells of therapeutic proteins and antibodies.

Download or read book Cell compartments and intracellular trafficking of lipids and proteins Impact on biomedicine written by Silvana Zanlungo and published by Frontiers Media SA. This book was released on 2022-12-30 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Myelin Repair At the Crossing Lines of Myelin Biology and Gene Therapy written by Matthias Klugmann and published by Frontiers Media SA. This book was released on 2022-03-08 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Inflammatory immune disease Molecular mechanisms translational approaches and therapeutics volume II written by Tao Xu and published by Frontiers Media SA. This book was released on 2023-03-17 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Modulation of Ion Channels and Ionic Pumps by Fatty Acids Implications in Physiology and Pathology written by Mario Diaz and published by Frontiers Media SA. This book was released on 2019-02-05 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Neuronal ceroid lipofuscinosis a multidisciplinary update written by Alessandro Simonati and published by Frontiers Media SA. This book was released on 2022-12-08 with total page 111 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Mitochondrial Communication in Physiology Disease and Aging written by Nuno Raimundo and published by Frontiers Media SA. This book was released on 2019-08-20 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.