Advertisement
| enzyme replacement therapy pompe: 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 pompe: 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 pompe: 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 pompe: Neuromuscular Imaging Mike P. Wattjes, Dirk Fischer, 2013-06-05 Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging—including aspects of neuroimaging and musculoskeletal imaging—in patients with inherited, metabolic, and inflammatory muscle diseases. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Topics discussed include: -Modalities such as ultrasound, CT and MRI -Muscle anatomy and physiology -Clinical applications in hereditary and acquired myopathies -Clinical applications in motor neuron disorders and peripheral nerve imaging |
| enzyme replacement therapy pompe: 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 pompe: Exploring Novel Clinical Trial Designs for Gene-Based Therapies National Academies of Sciences, Engineering, and Medicine, Health and Medicine Division, Board on Health Sciences Policy, Forum on Regenerative Medicine, 2020-08-27 Recognizing the potential design complexities and ethical issues associated with clinical trials for gene therapies, the Forum on Regenerative Medicine of the National Academies of Sciences, Engineering, and Medicine held a 1-day workshop in Washington, DC, on November 13, 2019. Speakers at the workshop discussed patient recruitment and selection for gene-based clinical trials, explored how the safety of new therapies is assessed, reviewed the challenges involving dose escalation, and spoke about ethical issues such as informed consent and the role of clinicians in recommending trials as options to their patients. The workshop also included discussions of topics related to gene therapies in the context of other available and potentially curative treatments, such as bone marrow transplantation for hemoglobinopathies. This publication summarizes the presentation and discussion of the workshop. |
| enzyme replacement therapy pompe: 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 pompe: 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 pompe: 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 pompe: 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 pompe: 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 pompe: 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 pompe: Muscle Gene Therapy Dongsheng Duan, 2009-11-26 Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy. |
| enzyme replacement therapy pompe: Inherited Metabolic Disease in Adults Carla E. M. Hollak, Robin Lachmann, 2016 As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care. |
| enzyme replacement therapy pompe: Oxford Desk Reference Richard Watts, 2009 Rheumatology is an ever-changing specialty in which the amount of available information is growing daily and spread across a myriad of books, journals and websites. The Oxford Desk Reference: Rheumatology brings this information together in an easy-to-use format. This essential resource combines up-to-date, relevant, evidence-based information with the latest guidelines and the experience of senior consultants. The book is designed such that each subject forms a self-contained topic in its own right, laid out across two or four pages to facilitate the key aim of rapid and easy access to information. This makes the information included simple to find, read and absorb, so that the book can be consulted in the clinic or ward setting for information on the optimum management of a particular condition. Written by internationally renowned rheumatology consultants, with expert contributors for each section, this book is must-have resource for all rheumatologists and an excellent reference for all doctors. |
| enzyme replacement therapy pompe: 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 pompe: Pathology of Heart Disease in the Fetus, Infant and Child Michael T. Ashworth, 2019-08-22 Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment. |
| enzyme replacement therapy pompe: 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 pompe: 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 pompe: Registries for Evaluating Patient Outcomes Agency for Healthcare Research and Quality/AHRQ, 2014-04-01 This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews. |
| enzyme replacement therapy pompe: 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 pompe: Chasing Miracles John Crowley, Aileen Crowley, 2010-01-12 When John and Aileen Crowley learned that their two youngest children had a rare and little understood genetic disorder, they didn't hope for miracles: they made them happen. In 1998, 15-month-old Megan and 4-month-old Patrick were diagnosed with Pompe disease, a rare and fatal neuromuscular disorder that affects only a few thousand children worldwide, usually leaving them with little to no muscle function, enlarged hearts, and severe difficulty breathing. The Crowleys were told to take their children home and enjoy their short time together...there is nothing that can be done. Raised in a blue-collar neighborhood in northern New Jersey, John Crowley, a recent Harvard MBA graduate working at Bristol-Myers Squibb, was just beginning to taste success in corporate America. But now he was absolutely determined to find a treatment to save his children's lives. Frustrated with the pace of Pompe research, Crowley walked away from the corporate world at the age of 31 to help co-found a start-up biotech company, focused exclusively on producing a lifesaving medicine. In Chasing Miracles, John Crowley writes from his heart about how he and his wife set out to do whatever it takes against phenomenal odds to help Megan and Patrick first to survive, and then to thrive—and to keep their family, including oldest son John Jr., together and their marriage strong. He tells about learning to ask for help, about not losing faith, about coping with adversity, about the generosity and kindness of others, and, most importantly, about what it means to never, never quit. As Aileen Crowley writes in her foreword, This book is our family's attempt to share much of what we have learned, especially from our children, who have taught us more about life and love than we have ever taught them. |
| enzyme replacement therapy pompe: Disorders of Voluntary Muscle George Karpati, David Hilton-Jones, Robert C. Griggs, 2001-07-12 Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle. |
| enzyme replacement therapy pompe: Echocardiography in Pediatric and Congenital Heart Disease Wyman W. Lai, Luc L. Mertens, Tal Geva, Meryl S. Cohen, 2012-01-03 Echocardiography is essential in the practice of pediatric cardiology. A clinical pediatric cardiologist is expected to be adept at the non-invasive diagnosis of congenital heart disease and those who plan to specialize in echocardiography will need to have knowledge of advanced techniques. Echocardiography in Pediatric and Congenital Heart Disease addresses the needs of trainees and practitioners in this field, filling a void caused by the lack of material in this fast-growing area. This new title comprehensively covers the echocardiographic assessment of congenital heart disease, from the fetus to the adult, plus acquired heart disease in children. Topics covered include: ultrasound physics laboratory set-up a protocol for a standard pediatric echocardiogram quantitative methods of echocardiographic evaluation, including assessment of diastolic function in depth coverage of congenital cardiovascular malformations acquired pediatric heart disease topics of special interest, such as 3D echocardiography, transesophageal echocardiography, and fetal echocardiography The approach of this book is a major advancement for educational materials in the field of pediatric cardiology, and greatly enhances the experience for the reader. An accompanying DVD with moving images of the subjects covered in the textbook will further enhance the learning experience. |
| enzyme replacement therapy pompe: The Floppy Infant Victor Dubowitz, 1980 The second edition of The Floppy Infant is devoted to the recognition and diagnosis of the floppy infant syndrome. It includes a review of some of the more important causes and provides a practical approach to the assessment and management such children require. The text of the first edition has been completely revised, but the emphasis has not changed: it remains an immensely practical and up-to-date handbook for the clinician. |
| enzyme replacement therapy pompe: 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 pompe: 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 pompe: Muscle Biopsy Victor Dubowitz, 1985 |
| enzyme replacement therapy pompe: 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 pompe: Inherited Metabolic Diseases Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, 2009-11-21 The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field. |
| enzyme replacement therapy pompe: Cardioskeletal Myopathies in Children and Young Adults John Lynn Jefferies, Burns Blaxall, Jeffrey Towbin, Jeffrey Robbins, 2016-11-09 Cardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40's-50's and the way they start to form in young adulthood. The Annals of Family Medicine report that approximately half of young adults have at least one cardiovascular disease risk factor (Mar 2010), and an increase in cardiovascular mortality rates in young adults was substantiated in a study at Northwestern Medicine (Nov 2011). Given the increasing recognition of genetic triggers behind all types of cardiovascular disease, and the growing population of young adults with primary or acquired myocardial disease, the need has arisen for a reference that offers a comprehensive approach to the understanding of basic, translational, and clinical aspects of specific muscle diseases while making the link between young adult and adult health. |
| enzyme replacement therapy pompe: 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 pompe: Pelvic Floor Re-education Bernhard Schüssler, Jo Laycock, Stuart L. Stanton, 2013-04-17 Pelvic Floor Re-education encompasses a variety of techniques for increasing the strength of, and control over, the pelvic floor muscles. These techniques are now emerging as an effective and viable alternative to surgery in the treatment of urinary incontinence and related conditions. This volume presents a reasoned, scientific approach to the use of pelvic floor re-education. Starting with the latest theories on anatomy, pathophysiology and possible causes of pelvic floor damage, the text then describes the importance of pelvic floor evaluation in determining the type of treatment required. A number of re-education techniques are assessed including isolated muscle exercise, vaginal cones, biofeedback control and electrical stimulation. Recent research work is also reviewed which allows the reader to evaluate the different modalities advocated in the management of pelvic floor dysfunction. |
| enzyme replacement therapy pompe: Diagnostic Electron Microscopy Richard G. Dickersin, 2006-04-28 This text atlas, now in its second edition, presents in simplest form the basic diagnostic criteria used by the electron microscopist in studying neoplasms and other diseases encountered in the routine practice of pathology. Every field of electron microscopy is covered and low magnification plates are juxtaposed with higher magnifications to illustrate diagnostic features. The largest section of the book is devoted to neoplasms as this is the area in which most diagnostic problems occur. Renal glomerular disease is another important category in which ultrastructural study may be critical in diagnosis; infectious diseases, especially those of viral, protozoan, and unusual bacterial etiologies, are a third area in which electron microscopy may be used to establish or susbstantiate a diagnosis. All of these areas are comprehensively covered with concise, readable text and more than 800 first-quality images. This book is the preeminent reference for pathologists needing current information on the role of ultrastructure in diagnostic pathology. |
| enzyme replacement therapy pompe: Endoscopic Evaluation and Treatment of Swallowing Disorders Susan Langmore, 2011-01-01 Implement FEES successfully into your practice! In the 10 years since Dr. Langmore pioneered and described endoscopic technique for evaluating pharyngeal swallowing function, the use of FEES (flexible endoscopy) has grown exponentially. The procedure is used throughout the world, with workshops held to sold-out attendance; demand for training materials continues unabated. Now there is one book that comprehensively covers the role of endoscopy in the assessment and treatment of oropharyngeal dysphagia. Written in step-by-step detail by the creator of the technique, the book gives you all the information you need to implement FEES in your practice. It offers valuable comparisons to other imaging tools, especially fluoroscopy, showing how this portable technique is the most efficient and cost-effective for patients who cannot easily be transported to a hospital. Highlights of the book: Comprehensive review of anatomy/physiology of oral & pharyngeal musculature Provides FEES protocol sheets for complete how-to instruction Shows how to score a FEES examination & possible abnormal findings Demonstrates the use of endoscopy in a wide range of populations infants, children, and geriatric patients, and those with head and neck cancer Lays out rehabilitative & compensatory techniques for each dysphagia problem Summarizes safety data from the three largest clinical studies ever undertaken Includes dozens of best practice case studies |
| enzyme replacement therapy pompe: 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 pompe: Enzymes as Drugs John S. Holcenberg, Joseph Roberts, 1981 |
| enzyme replacement therapy pompe: Clinical Guide to Cardiology Christian Fielder Camm, A. John Camm, 2016-03-07 Clinical Guide to Cardiology is a quick-reference resource, packed full of bullet points, diagrams, tables and algorithms for the key concepts and facts for important presentations and conditions within cardiology. It provides practical, evidence-based information on interventions, investigations, and the management of clinical cardiology. Key features include: A clear evidence-base providing key guidelines and clinical trials in each chapter Coverage of examination techniques, common conditions, imaging modalities (including ECGs, chest X-rays, MRI and CT), interventional therapies, and pharmacology A companion website at www.wiley.com/go/camm/cardiology featuring audio clips, developed for differing levels of knowledge, that explain key concepts or an area in greater detail, as well as numerous additional clinical case studies, audio scripts, and self-assessment material |
| enzyme replacement therapy pompe: 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 pompe: Sleep and Neurologic Disease Mitchell G. Miglis, 2017-02-20 Sleep and Neurologic Disease reviews how common neurologic illnesses, such as Parkinson's Disease and Alzheimer's dementia impact sleep. In addition, the book discusses how common primary sleep disorders influence neurologic diseases, such as the relationship between obstructive sleep apnea and stroke, as well as their association with various primary headache disorders and epilepsy syndromes. The utilization of sleep technology, such as polysomnography, multiple sleep latency testing, actigraphy, laboratory and CSF testing is also covered. The book is written for the practicing neurologist, sleep physician, neuroscientist, and epidemiologist studying sleep. Reviews how common neurological illnesses impact sleep and the impact sleep disorders have on neurologic disease Up-to-date, comprehensive overview written for practicing neurologists, sleep physicians, neuroscientists, and epidemiologists Includes informative discussions on sleep physiology, circadian rhythms, sleep and stroke, and treatment options for neurologists |
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 …
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 …
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 article...
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 certain …
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 act …
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 lowering …
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 and is …
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 processes. …
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 processes …
