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| enzyme replacement therapy ert: 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 ert: 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 ert: 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 ert: Hematopoietic Stem Cell Transplantation in Clinical Practice Jennifer G. Treleaven, A. John Barrett, 2008-09-02 A guide to the practice of stem cell transplantation, its status in the treatment of various disorders and the problems that arise after transplantation, aimed at the whole transplant team. - An up to date guide to best practice in the use of stem cell transplantation, covering current status in the treatment of malignant and non-malignant conditions, practical aspects and problems such as infection and graft versus host disease. - Has a practical, accessible approach with free use of algorithms, list tables. - Aimed at the whole transplant team - this is an interdisciplinary field. - International contributor team with editors in the UK and USA. - Illustrated in colour throughout. |
| enzyme replacement therapy ert: Protein Homeostasis Diseases Angel L. Pey, 2020-02-13 Protein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders. - Provides an interdisciplinary examination of protein homeostasis disorders, with an emphasis on treatment strategies employing small natural and pharmacological ligands - Offers applied approaches in employing high throughput sequencing and screening to develop pharmacological chaperones to treat protein homeostasis disease - Gathers expertise from a range of international chapter authors who work across various biological methods and disease specific disciplines of relevance |
| enzyme replacement therapy ert: Neuromuscular Disorders: Management and Treatment E-Book Tulio E. Bertorini, 2010-09-08 Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text. |
| enzyme replacement therapy ert: Gaucher Disease Anthony H. Futerman, Ari Zimran, 2006-07-07 In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto |
| enzyme replacement therapy ert: Gaucher's Disease Lunawati L. Bennett, 2020-07-13 Gaucher's Disease: From Diagnosis to Treatment was designed as an educational resource for all professionals involved in the care of patients with Gaucher disease (GD). Chapter 1 is an introduction about GD. GD is the most common autosomal recessive lysosomal storage disease (LSD) due to the deficiency or absence of the activity of enzyme glucosylceramidase (GCase) or also known as acid- glucosidase (GBA1) or uridine phosphate glucosylceramide synthase (UDP-GLC). Defects in these enzymes cause miss-sorting or loss function of lysosomal proteins leading to accumulation of glucocerebroside (GLC) in the tissue macrophages monocyte. Accumulation of GLC cause enlargement of the spleen, destruction of bone, anemia, thrombocytopenia, and abnormalities of the lungs. GD is classified into three types: type 1 GD (GD1) is a chronic and non-neuronopathic accounting for 95% of GD cases, and types 2 and 3 (GD2, GD3) involves nerve cell destruction causing acute brainstem dysfunction or progressive neuroleptic deterioration, respectively. Chapter 1 review disease classification, epidemiology, pathophysiology, and clinical manifestations of GD.Chapter 2 discusses GD diagnosis and clinical presentations from prenatal, newborn, first year of life, childhood, adolescence, and adulthood patients suspected to have GD. Several biomarkers, tools used to detect abnormal biomarkers such as chitotriosidase, pulmonary and activation-regulated chemokines, and other inflammatory markers are discussed, in addition to methods used to detect these biomarkers. Chapter 3 highlights available enzyme replacement therapy (ERT), clinical trials, dosing, and adverse drug reaction of each ERT, pregnancy information, and effect of ERT on endocrine and metabolic profiles. Chapter 4 discusses available substrate reduction therapy (SRT), clinical trials, dosing, adverse drug reaction, pregnancy information, drug-drug interaction and patients' polymorphism profiles that influence the dosing of SRT. Chapter 5 discusses type 2 and 3 GD which are the neuronopathic variants of the GD, genotype and phenotype of the patients, role of ERT or SRT or gene therapy, chaperone therapy, and hematopoietic stem cell transplantation. Chapter 6 discusses common complication of GD such as bone and hepatocellular abnormalities, increased risk of cancer and Parkinson Disease development. Chapter 7 highlights several novel therapies with their mechanisms of action, details regarding ongoing or completed clinical trials such as newer SRT lucerastat which is on clinical trials for possible use in GD3. At this time, there are no drugs available to treat GD2 or GD3. Promising novel therapy include pharmacology chaperone (PC), antioxidants, and gene therapy. There are 2 PCs currently being tested in clinical trial, ambroxol and arimoclomol. Ambroxol, an over the counter drugs has been used to treat various airway infections, showed promising result to cross blood brain barrier that provide promising options for GD3 treatment. |
| enzyme replacement therapy ert: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, 2024-10-23 For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics |
| enzyme replacement therapy ert: 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 ert: Cells and Culture Thomas Noll, 2010-07-17 Regeneration of tissue to replace damaged or injured tissue is the goal of t- sue engineering. Biomaterials like polyglycolic acid, collagen and small-intestinal submuscosa provide a temporary scaffold to guide new tissue growth and or- nization. Typically, they need to be biodegradable, showing good cell atta- ment and proliferation and they should possess appropriate mechanical properties (Kim et al. , 2000). Synthetic polymers ful ll most of these requirements but lack cell-adhesion peptides on their surface to enhance cell attachment. Ce- adhesion peptides are present in ECM proteins like collagen and elastin. Thus a synthetic polymer coated with ECM proteins would result in a scaffold that mimics the natural cellular environment with enhanced cell attachment and p- liferation. The new bioactive scaffold will be made by combining a synthetic polymer coated with a layer of recombinant ECM proteins produced by CHO cells. The rst step consists of identifying polymers that give best results in terms of CHO cell attachment and growth. Classical techniques to determine biomass are inappropriate to evaluate 3-D structures. Thus a screening system based on stable GFP expressing CHO cells was used to compare the different scaffolds. Simple uorescent measurement after cell lysis allows determining cell attachment and p- liferation on synthetic polymers. Finally CHO cells producing human recombinant collagen I and elastin were generated. We showed that both proteins are expressed and secreted by CHO DG44 cells. 2 Materials and Methods 2. |
| enzyme replacement therapy ert: 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 ert: Artificial Cells, Cell Engineering and Therapy S Prakash, 2007-05-31 Artificial cells, cell engineering and therapy are emerging technologies which will make a significant impact on the future of medicine and healthcare. However, research within the field is vast. This unique book provides a comprehensive study of the most recent advances in the field and its practical applications.The first part of the book offers the reader an introduction to the basics of artificial cell technology with chapters on its origins, design, current status within medicine and future prospects. Part two covers apoptosis, the use of bone marrow stromal cells in myocardial regeneration together with signalling and tissue engineering. Part three discusses artificial cells for therapy, procedures for various clinical conditions and the current status of the discipline within the field. The book concludes with a final section on the role of artificial cells in medicine with particular focus on the use of artificial cells as blood substitutes and their potential use in myocardial regeneration, drug delivery and in treating kidney and bowel diseases, diabetes and cancer.Artificial cells, cell engineering and therapy is a valuable reference for researchers, students and practitioners within the field. - Introduces the basics of artificial cell technology - Provides a comprehensive study of the most recent advances in artificial cells, cell engineering and cell therapy - Discusses the design, engineering and uses of artificial cells |
| enzyme replacement therapy ert: 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 ert: The McArdle Disease Handbook Kathryn Elizabeth Birch, Ph.D., 2011-07-01 This handbook explains, in layman's terms, the cause, method of inheritance, history and current and future treatments of McArdle Disease (also known as Glycogen Storage Disease Type V). The handbook puts into plain English the published information relating to the scientific and medical research into McArdle Disease. |
| enzyme replacement therapy ert: The Enzyme Cure Lita Lee, 2013-04-24 The medical industry continues to tell us that conventional medicine is the only way to treat all of our health issues. For too many people, however, these treatments do little more than spend money. But there are alternatives. For decades, the use of natural enzymes has been studied and evaluated. The Enzyme Cure is a comprehensive guide for everyone who wishes to learn more about treating health problems with enzymes. The Enzyme Cure teaches you how to use plant enzymes to help reverse asthma, cancer, diabetes, herpes, kidney stones, menopausal symptoms, weight problems, and dozens of other common disorders. It not only details the enzymes that should be used for each condition, but also guides you in treating many underlying problems through diet and lifestyle changes. If you have ever wanted safe and effective medical alternatives, ever wished that doctors would provide new solutions instead of more prescriptions, The Enzyme Cure is for you. |
| enzyme replacement therapy ert: 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 ert: Antimicrobial Peptides K. Ajesh, K. Sreejith, 2022-11-23 Antimicrobial Peptides: Challenges and Future Perspectives covers the latest developments about antimicrobial peptides in the scenario of drug resistance. The book is divided into 16 chapters arranged in sequence and preceded by chapters on historical developments and their role as regulatory molecules in innate defense mechanism. Emphasis is given to purification techniques and characterization suitable for interdisciplinary research. Chapters provide an inventory of various antimicrobial peptides, from a diverse array of organisms such as bacteria, fungi, insects, amphibians, plants and mammals. A section on marine ecosystem broadens readers understanding on marine based antimicrobial peptides. Additional sections provide an informative overview on peptides with antiviral properties and those targeting multi-drug resistant bacteria. Recent reports and mechanism on resistance against antimicrobial peptides are also provided, along with key insights into the challenges and future perspectives of peptide drug development. - Emphasizes antimicrobial peptides targeting various human viruses and multidrug resistant bacteria - Written by internationally recognized experts who provide readers with a wide and useful perspective - Provides in-depth resources for undertaking a research work in antimicrobial peptides with the inclusion of chapters on purification techniques and structural details - Addresses the possibility and availability of peptide antibiotics in the global drug market - Serves as a complete resource from the discovery to drug development of peptide antibiotics |
| enzyme replacement therapy ert: 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 ert: 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 ert: The Neuronal Ceroid Lipofuscinoses (Batten Disease) Sara Mole, Ruth Williams, Hans Goebel, 2011-03-10 The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research. |
| enzyme replacement therapy ert: Pulmonary Vascular Disorders Marc Humbert, R. Souza, Gérald Simonneau, 2012 An excellent overview of recent advances in diagnosis, classification and treatment The pulmonary circulation is by nature difficult to evaluate for the clinician and a challenge to investigate by radiographic and hemodynamic methods. In recent years, the field has been revolutionized by major improvements in diagnostic approaches and therapies. Tools for the classification, diagnosis, and management of pulmonary embolism and pulmonary hypertension have been developed and optimized, providing clinicians with detailed and updated guidelines. This volume provides the latest information on the fast-growing and challenging field of acute and chronic pulmonary vascular disorders from some of the field's major leaders in research, education, and care. The topics discussed are relevant to chest physicians, thoracic surgeons, nurses, students, and teachers, and a well-balanced mix of contributions ensures that doctors, clinicians, and institutions from all around the world will find the information presented to be both informative and useful to their situations. |
| enzyme replacement therapy ert: The EBMT Handbook Nicolaus Kröger, Mohamad Mohty, Carlo Dufour, 2020-10-08 This Open Access edition of the European Society for Blood and Marrow Transplantation (EBMT) handbook addresses the latest developments and innovations in hematopoietic stem cell transplantation and cellular therapy. Consisting of 93 chapters, it has been written by 175 leading experts in the field. Discussing all types of stem cell and bone marrow transplantation, including haplo-identical stem cell and cord blood transplantation, it also covers the indications for transplantation, the management of early and late complications as well as the new and rapidly evolving field of cellular therapies. This book provides an unparalleled description of current practices to enhance readers' knowledge and practice skills. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors. |
| enzyme replacement therapy ert: Motor Assessment of the Developing Infant Martha Piper, Martha Piper, PT, PhD, Johanna Darrah, 2021-09 Motor Assessment of the Developing Infant, 2nd Edition presents theories of infant motor development and discusses the unique challenges involved in assessing the motor skills of developing infants as compared to that of adults. It provides step-by-step instructions for using the Alberta Infant Motor Scale (AIMS) - a scale that measures infant gross motor skills. It also features a review of two current theories of motor development, line drawings and photographs of 58 gross motor skills, and a percentile graph to plot an infant's score and derive an estimate of his or her percentile ranking. Clinicians, researchers, and parents/caregivers have all reported satisfaction with both the ease of an AIMS assessment and the strong psychometric properties of the scale. Thus, the descriptors of the 58 motor items and the administration and scoring guidelines have stood the test of time and remain unchanged in this second edition. If you have a general Permissions query or require guidance on how to request permission, please visit Elsevier's Permissions FAQ page (https://www.elsevier.com/about/policies/copyright/permissions) where you will find further information, or alternatively you may submit a question via (https://service.elsevier.com/app/contact/supporthub/permissions-helpdesk/). For Licensing opportunities, please contact H.Licensing@elsevier.com. Comprehensive coverage of how to use the Alberta Infant Motor Scale, a standardized measurement scale used to assess the gross motor abilities of infants. Line drawings and photographs of 58 gross motor skills. Five copies of the AIMS scoresheet are included with the print edition. The Alberta Infant Motor Scale is trusted by clinicians and researchers across the globe. NEW! Enhanced eBook version, included with print purchase, contains an electronic view of the scoresheet for ease of reference and allows you to access all of the text, figures, and references from the book on a variety of devices. NEW! Clinical examples in the Clinical Uses of the Alberta Infant Motor Scale chapter offer brief case studies showing the different clinical uses of the AIMS. NEW! Scoring section in the Administration Guidelines chapter includes examples of common scoring errors. NEW! Additional scoring hints are provided for items that have been identified as problematic during therapist training sessions. UPDATED! Theories of Motor Development chapter presents the change from the neuromaturational theory to those originating from dynamic systems theory and motor control theories. UPDATED! Motor Assessment of the Developing Infant chapter includes a discussion of the unique challenges of assessing infant motor abilities and the important psychometric properties to consider when choosing an infant assessment tool. UPDATED! Clinical Uses of the Alberta Infant Motor Scale chapter includes recent literature on clinical uses and advises on when not to use the AIMS as an assessment measure. UPDATED! Norm-Referencing of the Alberta Infant Motor Scale chapter reflects the most up-to-date normative data and validity research and discusses research on the instability of infant motor scores over time in typically developing infants using the AIMS. |
| enzyme replacement therapy ert: Drug-Induced Liver Injury , 2019-07-13 Drug-Induced Liver Injury, Volume 85, the newest volume in the Advances in Pharmacology series, presents a variety of chapters from the best authors in the field. Chapters in this new release include Cell death mechanisms in DILI, Mitochondria in DILI, Primary hepatocytes and their cultures for the testing of drug-induced liver injury, MetaHeps an alternate approach to identify IDILI, Autophagy and DILI, Biomarkers and DILI, Regeneration and DILI, Drug-induced liver injury in obesity and nonalcoholic fatty liver disease, Mechanisms of Idiosyncratic Drug-Induced Liver Injury, the Evaluation and Treatment of Acetaminophen Toxicity, and much more. - Includes the authority and expertise of leading contributors in pharmacology - Presents the latest release in the Advances in Pharmacology series |
| enzyme replacement therapy ert: Curing Genetic Diseases through Genome Reprogramming , 2021-06-24 Curing Genetic Diseases through Genome Reprogramming, Volume 182 captures an historic moment in the field of gene therapy—the dawn of a new age in which the dream of curing genetic diseases has become realizable. The volume presents the most clinically advanced gene therapy and genome editing approaches for the treatment of genetic diseases in specific organs, including difficult therapeutic targets, futuristic ideas of genetic interventions, and large scale human genome repair. An initial chapter addresses the complex ethical aspects involved in the very idea of modifying the human genome. - Provides a comprehensive view of gene therapy and genome editing technologies, including epigenetic editing - Describes the state-of-the-art and future directions for the treatment of genetic diseases, also considering economical aspects - Presents chapters that each give a thorough review of a specific disease, target organ or visionary approach, including ethical considerations |
| enzyme replacement therapy ert: Novel Therapeutic Concepts in Targeting Glioma Faris Farassati, 2012-04-04 Novel Therapeutic Concepts for Targeting Glioma offers a comprehensive collection of current information and the upcoming possibilities for designing new therapies for Glioma by an array of experts ranging from Cell Biologists to Oncologists and Neurosurgeons. A variety of topics cover therapeutic strategies based on Cell Signaling, Gene Therapy, Drug Therapy and Surgical methods providing the reader with a unique opportunity to expand and advance his knowledge of the field. |
| enzyme replacement therapy ert: Research Advancements in Pharmaceutical, Nutritional, and Industrial Enzymology Bharati, Shashi Lata, Chaurasia, Pankaj Kumar, 2018-05-11 Enzymes have interesting applications in our biological system and act as valuable biocatalysts. Their various functions allow enzymes to develop new drugs, detoxifications, and pharmaceutical chemistry. Research Advancements in Pharmaceutical, Nutritional, and Industrial Enzymology provides emerging research on biosynthesis, enzymatic treatments, and bioengineering of medicinal waste. While highlighting issues such as structural implications for drug development and food applications, this publication explores information on various applications of enzymes in pharmaceutical, nutritional, and industrial aspects. This book is a valuable resource for medical professionals, pharmacists, pharmaceutical companies, researchers, academics, and upper-level students seeking current information on developing scientific ideas for new drugs and other enzymatic advancements. |
| enzyme replacement therapy ert: Metabolic Cardiomyopathy H. Böhles, A. C. Sewell, 2004 During the last years the understanding for the aetiology of cardiomyopathies could be greatly improved. A great deal of information has accumulated in the field of inherited metabolic diseases, which provides a new basis for our understanding of many heart muscle problems and their corresponding clinical disease entities. This book is meant to give the reader a comprehensive overview of the cardiological manifestations of inborn errors of metabolism. Latest information, such as cardiomyopathy in Fabry disease or in patients with CDG-syndrome is included. It should be helpful, not only to cardiologists, paediatricians, internists and general practicioners, but also to all those interested in a better understanding of the metabolic basis of clinical disease entities. |
| enzyme replacement therapy ert: Movement Disorders in Childhood Harvey S. Singer, Jonathan W. Mink, Donald L. Gilbert, Joseph Jankovic, 2015-10-27 Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. - Provides the only current reference specifically focused on childhood movement disorders - Investigates the underlying etiologies and mechanisms of these disorders - Completely revised and updated with new materials and a more disease-oriented approach - New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis - New videos of instructive and unusual childhood movement disorders - 2016 BMA Medical Book Awards Highly Commended in Neurology |
| enzyme replacement therapy ert: 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 ert: Gaucher Disease, a Century of Delineation and Research Robert J. Desnick, Shimon Gatt, Gregory A. Grabowski, 1982 |
| enzyme replacement therapy ert: Lashley's Essentials of Clinical Genetics in Nursing Practice Christine E. Kasper, PhD, RN, FAAN, Tonya Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC, CNE, CHSE-A, ANEF, FAAN, Felissa R. Lashley, PhD, RN, FABMGG, 2015-09-16 Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students |
| enzyme replacement therapy ert: Harrison's Principles of Internal Medicine Tinsley Randolph Harrison, 1998 Classic text for practitioners, residents, and students. |
| enzyme replacement therapy ert: Pulmonary Function Testing in Children: Techniques and Standards George Polgar, Promadhat Varuni, 1971 |
| enzyme replacement therapy ert: 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 ert: Expression Systems Michael R. Dyson, Yves Durocher, 2007 Protein expression is an increasingly important tool for research on gene function. What is needed is not just a lab manual providing established methods as well as the latest state-of-the-art protocols, but also clear advice on what expression system to choose when. Expression Systems: Methods Expressuniquely fills this need. It covers expression across a broad range of systems, including the following. *Baculovirus expression vectors *CHO cells *E. coli *HEK293-EBNA1 cells *Lactococcus lactis and other gram positive bacteria *S. cerevisiae *transfected insect cells *Pichia pastoris *mammalian cells using BacMam viruses *lentiviral vectors *wheat germ cell-free system The book takes the reader through how to make an informed choice of appropriate system, taking into account the protein target, the time involved, the ultimate use of the expressed protein, and the laboratory equipment required. It also provides step-by-step methods for each system. In addition, the book describes the optimisation of expression strategies, expression engineering using ribosome display, and how to select protein variants with improved expression. Every chapter discusses the merits and limitations of the approaches available, describes the key techniques in full practical detail, and provides sensible advice for immediate use at the bench. In summary, Expression Systems: Methods Expressis a comprehensive laboratory manual and information resource for researchers at all levels, from postgraduate student to principal investigator. |
| enzyme replacement therapy ert: Oxford Textbook of Medicine D. J. Weatherall, 1984 |
| enzyme replacement therapy ert: The ESC Textbook of Cardiovascular Medicine A. John Camm, 2019 |
| enzyme replacement therapy ert: Metabolic and Molecular Bases of Inherited Diseases: Single Chapter Reprint from 0071163360 Charles R. Scriver, 2002-06 |
Enzyme - Wikipedia
An enzyme (/ ˈ ɛ n z aɪ m /) is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme …
Enzyme | Definition, Mechanisms, & Nomenclature | Britannica
May 20, 2025 · Enzyme, a catalyst that regulates the rate at which chemical reactions proceed in living organisms without itself being altered in the process. Most critically, enzymes catalyze all …
Enzymes: Function, definition, and examples - Medical News Today
Dec 8, 2023 · Enzymes provide help with facilitating chemical reactions within each cell. Since they are not destroyed during the process, a cell can reuse each enzyme repeatedly. This …
Enzymes: What Are Enzymes, Pancreas, Digestion & Liver Function
May 12, 2021 · Enzymes are proteins that help speed up chemical reactions in our bodies. Enzymes are essential for digestion, liver function and much more. Too much or too little of a …
Enzyme: Definition, Types, Structure, Functions, & Diagram
Nov 11, 2021 · Enzymes are protein macromolecules that are necessary to initiate or speed up the rate of chemical reactions in the bodies of living organisms. The molecules on which …
Enzymes - Definition, Examples, Function - Science Notes and …
Mar 25, 2025 · Enzymes are specialized proteins (and in some cases RNA molecules) that act as catalysts in living organisms. They speed up the chemical reactions required for life by …
Enzyme - National Human Genome Research Institute
3 days ago · An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction …
Enzymes: Structure, Types, Mechanism, Functions - Microbe Notes
Nov 9, 2023 · An enzyme is a protein biomolecule that acts as a biocatalyst by regulating the rate of various metabolic reactions without itself being altered in the process.
What Are Enzymes? - BYJU'S
“Enzymes can be defined as biological polymers that catalyze biochemical reactions.” The majority of enzymes are proteins with catalytic capabilities crucial to perform different …
What is an enzyme? | Britannica - Encyclopedia Britannica
An enzyme is a substance that acts as a catalyst in living organisms, regulating the rate at which chemical reactions proceed without itself being altered in the process. The biological …
Effective Date: 06/06/2024 - BCBSM
- Enzyme replacement is the standard of care in FD. Fabrazyme is approved for patients age 2 years and older with Fabry’s disease. Elfabrio is approved for adult patients with confirmed …
Therapy: Challenges and Future Perspectives - ResearchGate
for enzyme replacement therapy (ERT). These medical treatments are employed to try to restore the lost or altered enzymatic activity. ...
Updated Management Guidelines for Adenosine Deaminase …
infants. Most patients benefit from enzyme replacement therapy (ERT). Allogeneic hematopoietic cell transplantation from an HLA-matched sibling donor or HLA-matched family member donor …
Article - Bridging Gaps in Rare Disease Clinical Trials - Medpace
Dual component ‘next generation’ enzyme replacement therapy (ERT) with an enzyme stabilizer offers an important new treatment option in addressing disease progression and effectively …
Hypersensitivity reactions and enzyme replacement therapy: …
Nov 4, 2021 · Enzyme replacement therapy (ERT) is the most important therapeutic strategy for MPS patients, slowing the disease pro-gression, ameliorating the symptoms, and improving …
Home Enzyme Replacement Therapy in Gaucher Disease: A …
J. Clin. Med. 2025, 14, 842 2 of 10 Currently, in many countries, patients have the option to receive ERT at home. However, there are still countries or regions where home ERT is not …
Intravenous Enzyme Replacement Therapy (ERT) for …
Intravenous Enzyme Replacement Therapy (ERT) for Gaucher Disease Page 2 of 7 UnitedHealthcare Individual Exchange Medical Benefit Drug Policy Effective 06/01/2025 …
Enzyme Replacement Therapy for Gaucher Disease: The …
enzyme replacement therapy (ERT) and bone marrow transplantation (BMT). Gene therapy remains experimental and has recently entered Phase I trials in America. Successful BMT …
Current and new therapies for mucopolysaccharidoses
HeS HurlereSheie, ERT enzyme replacement therapy, HSCT hematopoietic stem cell transplantion. Pediatrics and Neonatology 64 (2023) S10eS17 S11. outcomes among …
Enzyme Replacement Therapy for Different Diseases
Enzyme Replacement Therapy (ERT), which is based on the intravenous infusion of specific enzymes created using recombinant DNA technology on a regular basis, is now the most …
Causal Therapies in Mucopolysaccharidoses: Enzyme …
advent of enzyme replacement therapy (ERT), patients are offered a route of treatment that can target the underlying pathology itself. ERT has been successfully used for many ... Enzyme …
This label may not be the latest approved by FDA. For current …
POMBILITI is a hydrolytic lysosomal glycogen-specific enzyme indicated, in combination with Opfolda, an enzyme stabilizer, for the treatment of adult patients with late-onset Pompe …
FABRY DISEASE NEPHROPATHY: BIOMARKERS IN PATIENTS …
ON ENZYME REPLACEMENT THERAPY WN’25 FERUARY 6-9, 2025, NEW DELHI, INDIA fernando.perretta@neframedicalcare.com WCN25-AB-608 Table 1. Patients results. Lyso …
Economic Burden of Gaucher Disease at a Tertiary Care Public …
care is enzyme replacement therapy (ERT) [] and substrate 3 reduction therapy (SRT) is also available [3 ]. The incremental cost effectiveness ratio of £200,000 per quality adjusted life …
Adjunctive albuterol enhances the response to enzyme …
zyme replacement therapy in late-onset Pompe dis-ease. FASEB J. 28, 2171–2176 (2014). www.fasebj.org Key Words: mannose-6-phosphate receptor! acid!-gluco-sidase! acid maltase! …
FABRYDISEASE - Emory School of Medicine
The term Enzyme Replacement Therapy (or ERT) refers to a treatment using an enzyme produced by genetically engineered cells. The purpose of ERT is to replace the enzyme that a …
TITLE: Enzyme Replacement Therapy for Rare Diseases: A …
Enzyme replacement therapy (ERT) has been used as an intervention in various LSDs and involves replacement of the missing or malfunctioned enzyme with a functional enzyme …
Enzyme replacement therapy: efficacy and - ResearchGate
Enzyme replacement therapy (ERT), based on the periodic intravenous administration of specific enzymes produced with recombinant DNA technology, is at present the most
Therapeutic developments for neurodegenerative GM1 …
2.1 Enzyme replacement therapy Perhaps the most translatable GM1 treatment approach is the exogenous replacement of the dysfunctional enzyme. ERT, wherein enzymes are …
Intravenous Enzyme Replacement Therapy (ERT) for …
Enzyme replacement therapy with Cerezyme is proven and medically necessary for the treatment of Type 3 Gaucher disease when all of the following criteria are met : 4,11-15
Classic Infantile-Onset Pompe Disease (IOPD) - AMDA Pompe
Apr 5, 2024 · improved greatly with enzyme replacement therapy (ERT) and supportive therapies. With treatment, there is a better chance that babies can grow to be adults. They will continue …
Enzyme replacement therapy for metabolic disorder HTA …
with haematopoietic cell transplant (HCT) and enzyme replacement therapy (ERT). HCT requires matched-donor and is not an option for most patients. ERT involves regular intravenous …
Intravenous Enzyme Replacement Therapy (ERT) for …
*VPRIV is the preferred enzyme replacement therapy. Enzyme replacement therapy with Elelyso is medically necessary for the treatment of Type 1 Gaucher disease when all of the following …
Effects of Agalsidase Alfa Enzyme Replacement Therapy on …
ECG indicates electrocardiogram; and ERT, enzyme replacement therapy.1. Figure Time 2. Time course of ECG parameters during ERT. A: course of RV5 + SV1 voltage and negative T depth …
Pompe Disease: Long-Term Follow-up Clinical Guidelines
Jun 20, 2018 · • Enzyme replacement therapy (ERT) – Alglucosidase alfaapproved by FDA in 2006 • Standard dose: 20 mg/kg via IV infusion biweekly ... Jones SA, VellodiA. Response of …
Impact of intracerebroventricular enzyme replacement …
enzyme activity, and group NT is considered to have null type muta-tions, such as deletions, recombination with pseudogene, and nonsense mutations.4 The patients in group NT show a …
Home Enzyme Replacement Therapy in Gaucher Disease : A …
Enzyme replacement therapy (ERT) has been available for patients with Gaucher dis-ease (GD) since the early 1990s [1]. ERT can be administered in hospitals or at home based on patient …
Sandro Feriozzi, with fabry disease: a Markov model - Frontiers
Conclusion: ERT therapy is a cost-effective program compared to “No ERT” therapy. KEYWORDS fabry disease, enzyme replacement therapy, agalactosidase-α, Markov model, …
MOH/P/PAK/216.11(GU) - Ministry of Health
4 by enzyme replacement therapy in malaysia FOREWORD Rare inherited Lysosomal Storage Diseases (LSD) pose diagnostic and therapeutic challenge. They are also increasingly …
In Utero Enzyme-Replacement Therapy for Infantile-Onset …
natal therapy because organ damage starts in utero. We report the safety and ef-ficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic …
Effect of the enzyme replacement therapy on hypertrophic …
Enzyme replacement therapy (ERT) with recombinant human acid a-glucosidase has changed the natural course of the disease.2 Herein, we will present the dramatic evolu-tion of hypertrophic …
ANNEX I SUMMARY OF PRODUCT CHARACTERISTICS
VPRIV is indicated for long-term enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease. 4.2 Posology and method of administration VPRIV treatment should be …
A two-component therapy for adults with current enzyme …
Enzyme replacement therapy Enzyme replacement therapy, or ERT, is a prescription medicine that is infused intravenously to replace missing or deficient GAA enzymes in people with …
Targeted nanoliposomes to improve enzyme replacement …
Dec 13, 2024 · The main treatment option for patients with LSD is the enzyme replacement therapy (ERT), which consists of the intravenous ad-ministration of an active recombinant …
negative patients with infantile Pompe disease enzyme …
infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic …
Long-Term Effects of Enzyme Replacement Therapy on …
Enzyme replacement therapy (ERT) with recombinant-galactosidase A cleared microvascular deposits of globotri-aosylceramide in biopsies of kidney, skin, and heart of most Fabry …
In Utero Enzyme-Replacement Therapy for Infantile-Onset …
Nov 9, 2022 · The first data point for Sibling 1 is just before the initiation of enzyme-replacement therapy (ERT), and the plot shows pro-longed time to improvement; Sibling 2 never received …
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 …
Intrathecal enzyme replacement for Hurler syndrome: …
Jan 14, 2019 · i.e., enzyme replacement therapy (ERT). Intravenous ERT is presumed to be unable to penetrate the blood–brain barrier to treat the CNS manifestations of Hurler …
Fabry Disease: Switch from Enzyme Replacement Therapy to …
Current therapeutic options include enzyme replacement therapy (ERT), agalsidase alfa (Replagal ® , Takeda-Shire Human Genetic Therapies, Lexington, MA, USA), and agalsi-
Package Insert and Patient Information - ADZYNMA - U.S.
demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP) [see Use in Specific Populations (8.4), Clinical …
HIGHLIGHTS OF PRESCRIBING INFORMATION Recommended …
VPRIV is indicated for long-term enzyme replacement therapy (ERT) for patients with type 1 Gaucher disease. 2 DOSAGE AND ADMINISTRATION 2.1 Recommendations Prior to VPRIV …
Comparative impact of AAV and enzyme replacement …
GAA (enzyme replacement therapy (ERT)), which has been shown to reduce cardiac dilation, lessen respiratory insufficiency, and improve overall survival rate in early-onset patients.9 …
Chapter Enzyme-Replacement Therapy in Fabry Disease
3. Enzyme-replacement therapy (ERT) Before ERT was available, a reduced life span of about 25 years in males and 10 years in females was expected compared with the general population …
Therapeutic Approaches in Pompe Disease
cross-correction of the circulating enzyme Liver-directed gene expression may result inimmune via antigen-specific regulatory T-cells14 Currently available therapies includeEnzyme …
Home-based service for enzyme replacement therapy in …
standard-of-care treatment for LSDs is hospital-based infusion of enzyme replacement therapy (ERT), however, over time this can be stressful and inconvenient. The Italian TuTor program, …
Enzyme Replacement Therapy - SAGE Journals
Current pathogenesis-based therapy involves enzyme replacement therapy (ERT) by the intravenous administration of human recombinant a-galactosidase A (agalsidase), either …
Enhancing access to treatment for Gaucher disease in India: …
3.1.2 Enzyme replacement therapy (ERT): ERT has revolutionized the management of GD. It involves the administration of a synthetic b-glucocerebrosidase enzyme to compensate for the …
Advances in Immune Tolerance Induction in Enzyme …
Enzyme replacement therapy (ERT) is the primary treat-ment for various inborn errors of the metabolism, includ-ing lysosomal storage disorders (LSD), and has been used in other inborn …
Overcoming the Effect of Previous Enzyme Replacement …
the Effect of Previous Enzyme Replacement Therapy on the Detection of Anti-transgene Protein Antibodies After Treatment with Gene Therapy. Introduction • Many AAV gene therapies in the …
