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| enzyme replacement therapy for hunter syndrome: The Metabolic & Molecular Bases of Inherited Disease Charles R. Scriver, 2001 Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism. |
| enzyme replacement therapy for hunter syndrome: Bone Dysplasias Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger, 2018 The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians. --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders. |
| enzyme replacement therapy for hunter syndrome: Techniques in Diagnostic Human Biochemical Genetics Frits A. Hommes, 1991 Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test. |
| enzyme replacement therapy for hunter syndrome: Progressive Brain Disorders in Childhood Juan M. Pascual, 2017-04-20 A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management. |
| enzyme replacement therapy for hunter syndrome: The Blood-brain Barrier William M. Pardridge, 1993 The characterization of the blood-brain barrier (BBB) is undergoing a paradigm shift as the century-old concept of a passive, impermeable barrier that segregates blood and brain interstitial fluid is giving way to the idea that the BBB is a dynamic conduit for the transport between blood and brain of those nutrients, peptides, proteins, or immune cells that have access to certain transport systems localized within the BBB membranes. This volume contains 20 contributed chapters organized in four parts: cell-cell interactions, subcellular organelle function, signal transduction mechanisms, and gene expression. There is also a foreword by the late W.H. Oldendorf (1925-1992) on the teleology of the blood-brain barrier and the survival advantage conferred upon the organism by its presence in the vertebrate brain. Annotation copyright by Book News, Inc., Portland, OR |
| enzyme replacement therapy for hunter syndrome: Metabolic Diseases E. Gilbert-Barness, L.A. Barness, P.M. Farrell, 2017-01-06 The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders. |
| enzyme replacement therapy for hunter syndrome: Handbook of Growth and Growth Monitoring in Health and Disease Victor R. Preedy, 2011-12-02 Growth is one of the human body’s most intricate processes: each body part or region has its own unique growth patterns. Yet at the individual and population levels, growth patterns are sensitive to adverse conditions, genetic predispositions, and environmental changes. And despite the body’s capacity to compensate for these developmental setbacks, the effects may be far-reaching, even life-long. The Handbook of Growth and Growth Monitoring in Health and Disease brings this significant and complex field together in one comprehensive volume: impact of adverse variables on growth patterns; issues at different stages of prenatal development, childhood, and adolescence; aspects of catch-up growth, endocrine regulation, and sexual maturation; screening and assessment methods; and international perspectives. Tables and diagrams, applications to other areas of health and disease, and summary points help make the information easier to retain. Together, these 140 self-contained chapters in 15 sections [ok?] cover every area of human growth, including: Intrauterine growth retardation. Postnatal growth in normal and abnormal situations. Cells and growth of tissues. Sensory growth and development. Effects of disease on growth. Methods and standards for assessment of growth, and more. The Handbook of Growth and Growth Monitoring in Health and Disease is an invaluable addition to the reference libraries of a wide range of health professionals, among them health scientists, physicians, physiologists, nutritionists, dieticians, nurses, public health researchers, epidemiologists, exercise physiologists, and physical therapists. It is also useful to college-level students and faculty in the health disciplines, and to policymakers and health economists. |
| enzyme replacement therapy for hunter syndrome: Fabry Disease Deborah Elstein, Gheona Altarescu, Michael Beck, 2010-08-02 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. |
| enzyme replacement therapy for hunter syndrome: Pulmonary Function Testing in Children: Techniques and Standards George Polgar, Promadhat Varuni, 1971 |
| enzyme replacement therapy for hunter syndrome: Lysosomal Storage Disorders Atul B. Mehta, Bryan Winchester, 2012-09-06 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 |
| enzyme replacement therapy for hunter syndrome: Directed Enzyme Evolution: Advances and Applications Miguel Alcalde, 2017-02-14 This book focuses on some of the most significant advances in enzyme engineering that have been achieved through directed evolution and hybrid approaches. On the 25th anniversary of the discovery of directed evolution, this volume is a tribute to the pioneers of this thrilling research field, and at the same time provides a comprehensive overview of current research and the state of the art. Directed molecular evolution has become the most reliable and robust method to tailor enzymes, metabolic pathways or even whole microorganisms with improved traits. By mirroring the Darwinian algorithm of natural selection on a laboratory scale, new biomolecules of invaluable biotechnological interest can now be engineered in a manner that surpasses the boundaries of nature. The volume is divided into two sections, the first of which provides an update on recent successful cases of enzyme ensembles from different areas of the biotechnological spectrum, including tryptophan synthases, unspecific peroxygenases, phytases, therapeutic enzymes, stereoselective enzymes and CO2-fixing enzymes. This section also provides information on the directed evolution of whole cells. The second section of the book summarizes a variety of the most applicable methods for library creation, together with the future trends aimed at bringing together directed evolution and in silico/computational enzyme design and ancestral resurrection. |
| enzyme replacement therapy for hunter syndrome: Essentials of Anesthesia for Infants and Neonates Mary Ellen McCann, Christine Greco, Kai Matthes, 2018-02-22 A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia. |
| enzyme replacement therapy for hunter syndrome: Liver Disease in Children Frederick J. Suchy, Ronald J. Sokol, William F. Balistreri, 2007-05-07 Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease. |
| enzyme replacement therapy for hunter syndrome: Challenging Cases in Dermatology Volume 2 Mohammad Ali El-Darouti, Faiza Mohamed Al-Ali, 2019-08-28 This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases. |
| enzyme replacement therapy for hunter syndrome: Mucopolysaccharidoses Update (2 Volume Set) Shunji Tomatsu, Roberto Giugliani, Tadao Orii, Maurizio Scarpa, Paul Harmatz, Christine Lavery, Grzegorz Wegrzyn, Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the clinical conditions progress if untreated, leading to developmental delay, systemic skeletal deformities, and early death.Other clinical features include coarse facial features, corneal clouding, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, heart valvular disease and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. Patients may need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy throughout their lifetime. Current measures to intervene in bone disease progression and CNS involvement are not perfect and palliative, and improved therapies are urgently required and are being proposed.Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzymes to the brain and bones, especially avascular cartilage, to prevent or ameliorate the devastating neurological defects and skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion and damage, since the severity of CNS involvement and skeletal dysplasia is associated with the level of activity in a patient's daily life.For the maximum benefit of available therapies, early detection and intervention are critical. Newborn screening and diagnostic systems have been developed by using tandem mass spectrometry. We review the history of diagnosis and newborn screening as well. Overall, this book illustrates a to-date overview of the pathogenesis, diagnosis, biomarkers, screening, and updated therapies as well as their impact on MPS, including ERT, HSCT, gene therapy, and anti-inflammatory drugs. History and activities of MPS societies are also described. It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities. |
| enzyme replacement therapy for hunter syndrome: Biomarkers in Inborn Errors of Metabolism Uttam Garg, Laurie D. Smith, 2017-06-07 Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism |
| enzyme replacement therapy for hunter syndrome: Monoclonal Antibody Production National Research Council, Institute for Laboratory Animal Research, Committee on Methods of Producing Monoclonal Antibodies, 1999-05-06 The American Anti-Vivisection Society (AAVS) petitioned the National Institutes of Health (NIH) on April 23, 1997, to prohibit the use of animals in the production of mAb. On September 18, 1997, NIH declined to prohibit the use of mice in mAb production, stating that the ascites method of mAb production is scientifically appropriate for some research projects and cannot be replaced. On March 26, 1998, AAVS submitted a second petition, stating that NIH failed to provide valid scientific reasons for not supporting a proposed ban. The office of the NIH director asked the National Research Council to conduct a study of methods of producing mAb. In response to that request, the Research Council appointed the Committee on Methods of Producing Monoclonal Antibodies, to act on behalf of the Institute for Laboratory Animal Research of the Commission on Life Sciences, to conduct the study. The 11 expert members of the committee had extensive experience in biomedical research, laboratory animal medicine, animal welfare, pain research, and patient advocacy (Appendix B). The committee was asked to determine whether there was a scientific necessity for the mouse ascites method; if so, whether the method caused pain or distress; and, if so, what could be done to minimize the pain or distress. The committee was also asked to comment on available in vitro methods; to suggest what acceptable scientific rationale, if any, there was for using the mouse ascites method; and to identify regulatory requirements for the continued use of the mouse ascites method. The committee held an open data-gathering meeting during which its members summarized data bearing on those questions. A 1-day workshop (Appendix A) was attended by 34 participants, 14 of whom made formal presentations. A second meeting was held to finalize the report. The present report was written on the basis of information in the literature and information presented at the meeting and the workshop. |
| enzyme replacement therapy for hunter syndrome: Textbook of Clinical Pediatrics H. A. Harfi, H. Nazer, William Oh, F. B. Stapleton, R. J. Whitley, 2012-01-10 The new edition of this classic reference offers a problem-based approach to pediatric diseases. It encompasses almost all pediatric subspecialties and covers every pediatric disease and organ system. It includes case studies and over 750 lavish illustrations. |
| enzyme replacement therapy for hunter syndrome: CDC Growth Charts Robert J. Kuczmarski, 2000 |
| enzyme replacement therapy for hunter syndrome: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias Hooshang Taybi, Ralph S. Lachman, 1996 Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included. |
| enzyme replacement therapy for hunter syndrome: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici, 2014-07-08 This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases. |
| enzyme replacement therapy for hunter syndrome: Therapeutic Enzymes: Function and Clinical Implications Nikolaos Labrou, 2019-09-03 Therapeutic enzymes exhibit fascinating features and opportunities, and represent a significant and promising subcategory of modern biopharmaceuticals for the treatment of several severe diseases. Research and drug developments efforts and the advancements in biotechnology over the past twenty years have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of both rare and common disorders. The introduction and regulatory approval of twenty different recombinant enzymes has enabled effective enzyme-replacement therapy. This volume aims to overview these therapeutic enzymes, focusing in particular on more recently approved enzymes produced by recombinant DNA technology. This volume is composed of four sections. Section 1 provides an overview of the production process and biochemical characterization of therapeutic enzymes, while Section 2 focuses upon the engineering strategies and delivery methods of therapeutic enzymes. Section 3 highlights the clinical applications of approved therapeutic enzymes, including aspects on their structure, indications and mechanisms of action. Together with information on these mechanisms, safety and immunogenicity issues and various adverse events of the recombinant enzymes used for therapy are discussed. Section 4, provides discussion on the prospective and future developments of new therapeutic enzymes. This book is aimed at academics, researchers and students undertaking advanced undergraduate/postgraduate programs in the biopharmaceutical/biotechnology area who wish to gain a comprehensive understanding of enzyme-based therapeutic molecules. |
| enzyme replacement therapy for hunter syndrome: A National Strategy for the Elimination of Hepatitis B and C National Academies of Sciences, Engineering, and Medicine, Health and Medicine Division, Board on Population Health and Public Health Practice, Committee on a National Strategy for the Elimination of Hepatitis B and C, 2017-07-30 Hepatitis B and C cause most cases of hepatitis in the United States and the world. The two diseases account for about a million deaths a year and 78 percent of world's hepatocellular carcinoma and more than half of all fatal cirrhosis. In 2013 viral hepatitis, of which hepatitis B virus (HBV) and hepatitis C virus (HCV) are the most common types, surpassed HIV and AIDS to become the seventh leading cause of death worldwide. The world now has the tools to prevent hepatitis B and cure hepatitis C. Perfect vaccination could eradicate HBV, but it would take two generations at least. In the meantime, there is no cure for the millions of people already infected. Conversely, there is no vaccine for HCV, but new direct-acting antivirals can cure 95 percent of chronic infections, though these drugs are unlikely to reach all chronically-infected people anytime soon. This report, the second of two, builds off the conclusions of the first report and outlines a strategy for hepatitis reduction over time and specific actions to achieve them. |
| enzyme replacement therapy for hunter syndrome: Iminosugars Philippe Compain, Olivier R. Martin, 2007-10-22 Iminosugars form undoubtedly the most attractive of carbohydrate mimics reported so far. In these structures, the substitution of the endocyclic oxygen of sugars by a basic nitrogen atom leads to remarkable biological properties and raises many challenges in organic synthesis. Since the discovery of their biological activity as glycosidase inhibitors in the 1970’s, these polyvalent molecules have progressively made their way from the laboratory to the clinic. The impressive series of discoveries in the field over the past ten years indicates clearly that it is “a boom time” for iminosugar chemistry and biology. The scope of their profile as inhibitors has been extended to a number of enzymes such as phosphorylases, glycosyltransferases or metalloproteinases, and iminosugars now constitute lead compounds for the development of new therapeutic agents for a wide range of diseases including diabetes, viral infections, lysosomal storage disorders and tumor metastasis. Latest developments, from iminosugar synthesis to their use in clinical studies, are presented in this book, which contains contributions from over fifteen of the major chemists, biochemists and drug developers in this rapidly expanding field. An extensive table correlating the structures of more than 600 iminosugars of therapeutic interest with their biological activities is also included in the book and should prove particularly useful to aid with the design and the discovery of novel bioactive substances. Iminosugars: From Synthesis to Therapeutic Application provides a unique resource for academic and industrial researchers working in the field of iminosugars and glycomimetics of biological and/or therapeutic interest: organic chemists, medicinal chemists, carbohydrate chemists and medical scientists. |
| enzyme replacement therapy for hunter syndrome: Advances in Biotechnology Indu Ravi, Mamta Baunthiyal, Jyoti Saxena, 2013-10-21 The book “Advances in Biotechnology” is about recent advances in some of the important fields that are ongoing in certain biotechnological applications. Biotechnology has been quite helpful in keeping pace with the demands of every increasing human population and in improving the quality of human life. Major biotechnological achievements associated with human welfare have been from the fields like genetic engineering; transgenic plants and animals; genomics, proteomics, monoclonal antibodies for the diagnosis of disease, gene therapy etc. Fourteen authoritative chapters written by experts having experience in academics and research on current developments and future trends in biotechnology have been empathized. The book provides a detailed account of various methodologies used in biotechnology i.e. High capacity vectors, DNA sequencing dealing with next generation sequencing, Molecular markers, DNA microarray technology, as well as Proteomics that have revolutionized biotechnology with a wide array of applications. The book not only presents a well-founded explanation of the topics but also aims to present up-to-date reviews of current research efforts, some thoughtful discussions on the potential benefits and risks involved in producing biotechnological products and the challenges of bringing such products to market. It will prove to be an excellent reference work for both academicians and researchers, indicating new starting points to young researchers for new projects in the field. The book is intended for biotechnologist, biologist, researchers, teachers and students of Biosciences and Biotechnology. |
| enzyme replacement therapy for hunter syndrome: Pathology of Bone and Joint Disorders Print and Online Bundle Edward F. McCarthy, Frank J. Frassica, 2014-11-20 Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout. |
| enzyme replacement therapy for hunter syndrome: Hematopoietic Stem Cell Therapy Edward David Ball, Ping Law, 2000 This book will be the only current practical guide to a widely used procedure for treating leukemias and disseminated cancers. The contents are organized chronologically, to serve as a step-by-step guide throughout the transplant process. Comprehensive yet concise, it emphasizes the latest techniques, such as peripheral blood stem cell grafts. |
| enzyme replacement therapy for hunter syndrome: Newborn Screening for Pompe Disease Wuh-Liang Hwu, Yin-Hsiu Chien, Raymond Wang, 2021-09-02 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease. |
| enzyme replacement therapy for hunter syndrome: Cholestatic Liver Disease Elizabeth J. Carey, Keith D. Lindor, 2014-07-18 Since the publication of the first edition, there have been advances in both the diagnosis and the management of many of the cholestatic liver diseases. Cholestatic Liver Disease, Second Edition thoroughly updates the topics previously addressed, such as primary biliary cirrhosis, primary sclerosing cholangitis and cholestatic variants of drug hepatotoxicity and viral disease. New treatments, such as the development of the farnesoid X receptor agonists for the treatment of PBC, are highlighted. Current guidelines and areas of uncertainty are also covered. Additionally, new chapters have been added to reflect the changing landscape of cholestatic liver disease. Cholestatic Liver Disease, Second Edition is a concise yet comprehensive summary of the current status of the field and is of value to clinicians and researchers interested in patients with cholestatic liver disease provide that will help to guide patient management and stimulate investigative efforts. |
| enzyme replacement therapy for hunter syndrome: The Crush Syndrome (and Lessons Learned from the Marmara Earthquake) Mehmet Şükrü Sever, 2005 ARF induced by traumatic rhabdomyolysis and crush syndrome is a well-known complication occurring in the wake of natural or manmade disasters. As a matter of fact, it is the second most frequent cause of death, following the direct traumatic impact. Early recognition of the crush syndrome and rapid initiation of fluid replacement is essential as this can dramatically reduce the incidence of ARF. After the Marmara earthquake of 1999, the Turkish Society of Nephrology, in collaboration with the Renal Disaster Relief Task Force of the International Society of Nephrology, prepared special questionnaires to obtain patient data and follow-up information to analyze the extent of the nephrological problems. This book is based on the 639 cases consequently documented, constituting an unprecedented collection of first-hand experience on crush syndrome-related ARF following earthquakes. In addition to the data / analysis gained from the Marmara earthquake, each chapter also summarizes classical information on crush syndrome. In every major natural catastrophe, a rapid, appropriate and effective international response is essential to minimize losses and be able to adequately treat victims. This can be achieved only by rational planning and the establishment of an infrastructure composed of trained personnel, equipment, supplies and transportation that can be mobilized at a few hours' notice is essential. This book has been written with the intent to make use of the experiences made after the Marmara earthquake to save more lives in similar future disasters. |
| enzyme replacement therapy for hunter syndrome: Handbook of Clinical Obstetrics E. Albert Reece, MD, PhD, MBA, John C. Hobbins, 2008-04-15 The second edition of this quick reference handbook for obstetricians and gynecologists and primary care physicians is designed to complement the parent textbook Clinical Obstetrics: The Fetus & Mother The third edition of Clinical Obstetrics: The Fetus & Mother is unique in that it gives in-depth attention to the two patients – fetus and mother, with special coverage of each patient. Clinical Obstetrics thoroughly reviews the biology, pathology, and clinical management of disorders affecting both the fetus and the mother. Clinical Obstetrics: The Fetus & Mother - Handbook provides the practising physician with succinct, clinically focused information in an easily retrievable format that facilitates diagnosis, evaluation, and treatment. When you need fast answers to specific questions, you can turn with confidence to this streamlined, updated reference. |
| enzyme replacement therapy for hunter syndrome: Inborn Metabolic Diseases K. Tada, N.R.M. Buist, John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2013-03-14 Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy. |
| enzyme replacement therapy for hunter syndrome: Pediatric Critical Care Christopher W. Mastropietro, Kevin M. Valentine, 2018-12-10 This volume provides an overview of the most important current controversies in the field of pediatric intensive care. Organized into sections based on organ systems, the text focuses on controversies surrounding disease processes of the cardiac, respiratory, gastrointestinal, hematologic / immunologic, endocrine, and neurologic systems. Each chapter reviews the pros and cons of specific management approaches through case studies and the most up-to-date evidence-based resources, and concludes with bulleted take-home points for ease of use. Written by experts in the field, Pediatric Critical Care: Current Controversies is a valuable resource for intensivists, advanced practice providers, nurses, and other health care providers involved in the care of critically-ill children. |
| enzyme replacement therapy for hunter syndrome: Afraid of the Doctor Meghan L. Marsac, Melissa J. Hogan, 2021-07-16 Provides parents with the tools to support children who experience medical trauma Afraid of the Doctor is the first book written for parents to equip them with the knowledge and skills to support their children through medical challenges on a day-to-day basis, and specifically with medical trauma—experiences in healthcare that can profoundly affect a child’s response and willingness to even go to the doctor. The challenge of medical trauma is often under-recognized and overlooked in the healthcare system, leaving parents to learn about it and manage it on their own. This book helps parents understand medical trauma and learn strategies to reduce and even prevent it, empowering them to better care for their child’s emotional and physical health. Afraid of the Doctor integrates character stories throughout the book to illustrate the signs and symptoms of medical trauma and the roles parents and caregivers play in supporting their child through medical challenges. Readers will find twelve distinct strategies they can implement to help prevent and reduce medical trauma and otherwise support their child while facing medical interventions or a chronic condition. With compassion and empathy, Meghan Marsac and Melissa Hogan offer parents the tools they need to choose the strategies that will work best for their children and their families. |
| enzyme replacement therapy for hunter syndrome: Pediatric Pharmacotherapy Wieland Kiess, Matthias Schwab, Johannes van den Anker, 2020-07-15 This volume provides readers with the most updated scientific information on the efficacy and safety of medicines for children and adolescents. The book enriches the understanding of pediatric pharmacotherapy for health professionals, regulatory agencies, pharmaceutical companies and learned societies. It contains important information on the pharmacodynamics and pharmacokinetics of drugs. It summarizes the latest investigations on the effects of pharmacological treatments in relation to and dependent on age, gender, fat mass and disease status. Therefore and importantly, this volume reviews the latest data on how pharmacotherapy has to be adjusted and personalized in regards to stages of development and during the pediatric lifespan from neonate through adolescence. In addition, the topic of rare diseases and special challenges for pharmacotherapy will be included and will provide readers with the necessary knowledge to handle complex diseases and treatment strategies especially in relation to pharmacotherapy of rare and orphan diseases. |
| enzyme replacement therapy for hunter syndrome: Foetus Into Man James Mourilyan Tanner, 1990 Here is a brief and authoritative account of human physical growth, beautifully written by one of the world's foremost experts. In Fetus into Man Professor Tanner tells the story of growth in language that is both accessible to the nonbiologist and acceptable to the biologist. The book begins with the basics of growth: cell division, hormonal control and differential growth of body tissues. It then builds on these basics to provide a picture of individual growth--from the fetus in utero to the development of sex differences at puberty. Tanner pays special attention along the way to the psychological and social problems faced by children who mature either too soon or too late, and he concludes with a full description of the major growth disorders and current methods of treatment. Fetus into Man will be an important reference for parents, educators, students of development, and indeed anyone who must deal with the growing child. |
| enzyme replacement therapy for hunter syndrome: Enzymes as Drugs John S. Holcenberg, Joseph Roberts, 1981 |
| enzyme replacement therapy for hunter syndrome: Nelson Textbook of Pediatrics Richard E. Behrman, Robert Kliegman, Hal B. Jenson, 2004 Accompanying CD-ROM contains: contents of book; continuous updates; slide image library; references linked to MEDLINE; pediatric guidelines; case studies; review questions. |
| enzyme replacement therapy for hunter syndrome: Syndromes of the Head and Neck Robert J. Gorlin, Jens Jørgen Pindborg, Meyer Michael Cohen, 1976 |
| enzyme replacement therapy for hunter syndrome: Oral Pathology Joseph A. Regezi, James J. Sciubba, Richard C. K. Jordan, 2022 |
Idursulfase for enzyme-replacement therapy in …
Enzyme-replacement therapy with idursulfase (recombinant human iduronate-2-sulfatase) has been shown in a Phase II/III clinical trial to statistically significantly improve the primary end …
Hunter Syndrome (MPS II) - sabaiglobal.com
Enzyme replacement therapy (ERT) is the standard treatment for Hunter syndrome. Currently, the only ERT approved in the United States by the Food and Drug Administration (FDA) for the …
Treatment of mucopolysaccharidosis type II (Hunter …
Methods: Broad-based published/gray-literature searches through December 2015 for studies of males with confirmed mucopoly-saccharidosis type II (any age, phenotype, genotype, family …
CLINICAL GUIDELINES FOR OUTPATIENT ENZYME …
Hunter syndrome (Mucopolysaccharidosis II, MPS II) is an X-linked recessive disease caused by insufficient levels of the lysosomal enzyme iduronate-2-sulfatase.
The role of enzyme replacement therapy in severe Hunter …
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare, X-linked metabolic disease that is caused by a deficiency of the lysosomal enzyme, iduronate-2-sulfatase (I2S) [1, 27]. This …
Hunter Syndrome - National MPS Society
Enzyme replacement therapy (ERT) Individuals with MPS have a deficiency in certain enzymes that break down GAGs, leading to their buildup in the cells of various organs. Given by an …
Hunter Syndrome/MPS II – FDA-Requested Listening Session
Feb 4, 2020 · Management of MPS II and/or its symptoms: Enzyme Replacement Therapy, physical, speech, behavioral, and/or occupational therapy, hearing aids, medication, carpal …
UNDERSTANDING ELAPRASE (IDURSULFASE) THERAPY
ELAPRASE is the first and only enzyme replacement therapy (ERT) for Hunter syndrome available in the USA. It is designed to replace deficient/absent I2S enzyme activity in people …
A multicenter, open-label study evaluating safety and clinical …
recombinant form of human iduronate-2-sulfatase (idur-sulfase, Elaprase; Shire Human Genetic Therapies, Lexington, MA) has been approved in over 50 countries for enzyme replacement …
Hunter syndrome follow-up after 1 year of enzyme …
Enzyme-replacement therapy is hypothesised to result in disease stabilisation and improved prognosis. We present a severe case of Hunter syndrome diagnosed at age 2 years...
Evidence and recommendation for mucopolysaccharidosis …
activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. In 2006, the …
Hunter Syndrome A Case Report - International Journal of …
MPS II (Hunter syndrome). However, enzyme replacement therapy (ERT) using recombinant human iduronate-2-sulfatase is currently being introduced. This case of MPS type II was …
Recovery of Vision following Enzyme Replacement Therapy in …
We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of …
Mucopolysaccharidosis type II (Hunter syndrome): a clinical
Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to …
Prevalence and Characterization of Cardiac Involvement in …
Objectives To assess the prevalence of cardiovascular signs and symptoms in a large group of patients with Hunter syndrome, an X-linked metabolic disorder caused by a deficiency of the …
A phase II/III clinical study of enzyme replacement therapy …
Key Words: Mucopolysaccharidosis II, Hunter syndrome, enzyme replacement therapy, lysosomal storage disease Mucopolysaccharidosis (MPS) II (Hunter syndrome) is an X-linked, lysosomal...
Guidelines for diagnosis and treatment of Hunter Syndrome …
Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking …
Long-term, open-labeled extension study of idursulfase in the …
Recombinant human idursulfase was approved for enzyme replacement therapy (ERT) of Hunter syndrome in 2006. In the pivotal clinical trial, a randomized, double-blinded, placebo-
PRACTITIONER’S CORNER - jiaci.org
Enzyme replacement therapy with idursulfase is the best treatment for type II mucopolysaccharidosis (Hunter syndrome). Patients who have received this therapy have …
Idursulfase treatment of Hunter syndrome in children younger …
Purpose: To use the Hunter Outcome Survey, an international data-base, to assess the safety and effectiveness of enzyme replacement therapy with idursulfase in patients with Hunter …
Idursulfase for enzyme-replacement therapy in …
Enzyme-replacement therapy with idursulfase (recombinant human iduronate-2-sulfatase) has been shown in a Phase II/III clinical trial to statistically significantly improve the primary end point – the …
Hunter Syndrome (MPS II) - sabaiglobal.com
Enzyme replacement therapy (ERT) is the standard treatment for Hunter syndrome. Currently, the only ERT approved in the United States by the Food and Drug Administration (FDA) for the …
Treatment of mucopolysaccharidosis type II (Hunter …
Methods: Broad-based published/gray-literature searches through December 2015 for studies of males with confirmed mucopoly-saccharidosis type II (any age, phenotype, genotype, family …
CLINICAL GUIDELINES FOR OUTPATIENT ENZYME …
Hunter syndrome (Mucopolysaccharidosis II, MPS II) is an X-linked recessive disease caused by insufficient levels of the lysosomal enzyme iduronate-2-sulfatase.
The role of enzyme replacement therapy in severe Hunter …
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare, X-linked metabolic disease that is caused by a deficiency of the lysosomal enzyme, iduronate-2-sulfatase (I2S) [1, 27]. This …
Hunter Syndrome - National MPS Society
Enzyme replacement therapy (ERT) Individuals with MPS have a deficiency in certain enzymes that break down GAGs, leading to their buildup in the cells of various organs. Given by an intravenous …
Hunter Syndrome/MPS II – FDA-Requested Listening …
Feb 4, 2020 · Management of MPS II and/or its symptoms: Enzyme Replacement Therapy, physical, speech, behavioral, and/or occupational therapy, hearing aids, medication, carpal tunnel surgery,
UNDERSTANDING ELAPRASE (IDURSULFASE) THERAPY
ELAPRASE is the first and only enzyme replacement therapy (ERT) for Hunter syndrome available in the USA. It is designed to replace deficient/absent I2S enzyme activity in people with Hunter …
A multicenter, open-label study evaluating safety and clinical
recombinant form of human iduronate-2-sulfatase (idur-sulfase, Elaprase; Shire Human Genetic Therapies, Lexington, MA) has been approved in over 50 countries for enzyme replacement …
Hunter syndrome follow-up after 1 year of enzyme …
Enzyme-replacement therapy is hypothesised to result in disease stabilisation and improved prognosis. We present a severe case of Hunter syndrome diagnosed at age 2 years...
Evidence and recommendation for mucopolysaccharidosis type …
activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. In 2006, the US …
Hunter Syndrome A Case Report - International Journal of …
MPS II (Hunter syndrome). However, enzyme replacement therapy (ERT) using recombinant human iduronate-2-sulfatase is currently being introduced. This case of MPS type II was identified …
Recovery of Vision following Enzyme Replacement Therapy …
We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of the …
Mucopolysaccharidosis type II (Hunter syndrome): a …
Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to …
Prevalence and Characterization of Cardiac Involvement in …
Objectives To assess the prevalence of cardiovascular signs and symptoms in a large group of patients with Hunter syndrome, an X-linked metabolic disorder caused by a deficiency of the …
A phase II/III clinical study of enzyme replacement therapy …
Key Words: Mucopolysaccharidosis II, Hunter syndrome, enzyme replacement therapy, lysosomal storage disease Mucopolysaccharidosis (MPS) II (Hunter syndrome) is an X-linked, lysosomal...
Guidelines for diagnosis and treatment of Hunter Syndrome …
Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity …
Long-term, open-labeled extension study of idursulfase in the …
Recombinant human idursulfase was approved for enzyme replacement therapy (ERT) of Hunter syndrome in 2006. In the pivotal clinical trial, a randomized, double-blinded, placebo-
PRACTITIONER’S CORNER - jiaci.org
Enzyme replacement therapy with idursulfase is the best treatment for type II mucopolysaccharidosis (Hunter syndrome). Patients who have received this therapy have shown …
Idursulfase treatment of Hunter syndrome in children younger …
Purpose: To use the Hunter Outcome Survey, an international data-base, to assess the safety and effectiveness of enzyme replacement therapy with idursulfase in patients with Hunter syndrome...
