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| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Inborn Disorders of Sphingolipid Metabolism Stanley M. Aronson, Bruno W. Volk, 2017-01-31 Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis. |
| fabry disease enzyme replacement therapy: Oxford Textbook of Medicine D. J. Weatherall, 1984 |
| fabry disease enzyme replacement therapy: Neurocutaneous Disorders Christos P. Panteliadis, Christian Hagel, Ramsis Benjamin, 2016-01-14 Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders. |
| fabry disease enzyme replacement therapy: Harrison's Principles of Internal Medicine Tinsley Randolph Harrison, 1998 Classic text for practitioners, residents, and students. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Human Pathobiochemistry Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka, 2019-03-13 This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension. |
| fabry disease enzyme replacement therapy: Oxford Textbook of Clinical Nephrology Neil N. Turner, Norbert Lameire, David J. Goldsmith, Christopher G. Winearls, Jonathan Himmelfarb, Giuseppe Remuzzi, 2015-10-29 This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it. |
| fabry disease enzyme replacement therapy: Skin and the Heart Carmen Salavastru, Dedee F. Murrell, James Otton, 2021-03-10 This book describes the relationship of the skin with cardiovascular disease. It details the variety of genetic, autoimmune, metabolic and endocrine factors that link the two disciplines. Recognition of one sign or symptom in dermatology can lead to the investigation and discovery of an important related cardiac condition, the recognition of which is important to prevent cardiovascular complications. Similarly, a cardiac condition may be related to an underlying skin condition that requires treatment. Genetic examples of such instances included within the book include: pseudoxanthoma elasticum, epidermolysis bullosa with desmosome defects and plectin defects; Marfan syndrome; Autoimmune conditions include vasculitis, sarcoidosis, lupus; metabolic conditions include insulin resistance, eruptive xanthomas with hypertriglyceridemias and elevated cholesterol; endocrine disorders include thyroid acropachy with atrial fibrillation; insulin resistance with coronary artery disease and psoriasis or hidradenitis suppurativa. Skin and the Heart reviews the effects of genetic, autoimmune and endocrine diseases with connections between skin and heart. It is therefore a key reference for all practitioners and researchers working in both disciplines. |
| fabry disease enzyme replacement therapy: The Stroke Book Michel T. Torbey, Magdy H. Selim, 2013-07-18 An essential companion for busy professionals seeking to navigate stroke-related clinical situations successfully and make quick informed treatment decisions. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Musculoskeletal Imaging Volume 2 Mihra S. Taljanovic, Imran M. Omar, Kevin B. Hoover, Tyson S. Chadaz, 2019 Musculoskeletal Imaging Volume 2 summarizes the key information related to metabolic, infectious and congenital diseases; internal derangement of the joints; and arthrography and ultrasound. Succinct, structured overviews of each pathology are ideal for use by radiology residents during their musculoskeletal rotations and for residents, fellows, and practicing radiologists for board exam preparation or for daily clinical reference. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Molecular and Genetic Basis of Renal Disease David B. Mount, Martin R. Pollak, 2008-01-01 This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders. |
| fabry disease enzyme replacement therapy: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici, 2014-07-08 This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases. |
| fabry disease enzyme replacement therapy: Lysosomal Disorders of the Brain Steven U. Walkley, 2004 Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent yearsconsiderable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to thedevelopment of therapeutic strategies for their treatment. Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, thebook describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understandthe role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available. |
| fabry disease enzyme replacement therapy: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Roger N. Rosenberg, Juan M. Pascual, 2014-10-28 Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations |
| fabry disease enzyme replacement therapy: Biopsy Diagnosis of Peripheral Neuropathy Juan M Bilbao, Robert E Schmidt, 2014-11-05 Peripheral nerve analysis is a challenging task for pathologists, given the advent of new diagnoses and techniques of analysis and the impact of molecular genetics. This book presents a simple, logical method for constructing a differential diagnosis based on pathology and clinical presentation. It also provides advice on the selection of ancillary molecular, immunohistochemical and genetic techniques to establish a definitive diagnosis. Clear, authoritative guidance is offered on diagnosis of the full range of neuropathies with the aid of a wealth of high-quality color photomicrographs and electron micrographs. The pathologist will benefit greatly from the identification of a variety of artifacts and normal structures occasionally encountered in nerve biopsies that need to be distinguished from specific pathologic alterations. This user-friendly, practical text will be an invaluable aid in achieving the most specific diagnosis possible. |
| fabry disease enzyme replacement therapy: Postgraduate Haematology A. Victor Hoffbrand, Daniel Catovsky, Edward G. D. Tuddenham, 2008-04-15 Most hematologists need a revised and practical textbook in whichthey can rapidly search on the morning of a consultation...Thisbook will be an important resource in suchsituations. New England Journal of Medicine A well established and respected review ofhematology Postgraduate Haematology is a practical, readable text whichwill give trainees, residents and practising hematologistsup-to-date knowledge of the pathogenesis, clinical and laboratoryfeatures and management of blood disorders. Postgraduate Haematology is ideal for: Trainees and residents in hematology Hematologists in practice Why Buy This Book? A well established and respected review ofhematology Practical and readable text Essential information for everyday use as well as thescientific background Up-to-date knowledge of the pathogenesis, clinical andlaboratory features and management of blood disorders Complete revision of all chapters and the addition of newchapters to reflect latest advances in the speciality |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Current Therapy in Pain Howard S. Smith, 2009-01-01 This unique resource focuses on the diagnosis and treatment of painful conditions-both acute and chronic-from a multi-disciplinary perspective. Joined by a team of nearly 200 international contributors representing a wide range of specialties, Dr. Smith presents the best management options within and across specialties. Succinct treatment and therapy guidelines enable you to quickly access clinically useful information, for both inpatient and outpatient pain management, while a 2-color format enhances readability and ease of use and highlights key concepts. And, as an Expert Consult title, it includes access to the complete contents online, fully searchable, plus links to Medline and PubMed abstracts-providing rapid, easy consultation from any computer! Includes access to the complete text online, fully searchable, plus links to Medline and PubMed abstracts-providing quick and convenient reference from anyplace with an Internet connection. Offers a cross-discipline approach to pain management for a comprehensive view of the best treatment options within and across specialties including internal medicine, gynecology, physical medicine and rehabilitation, orthopedics, and family medicine. Provides succinct treatment and therapy guidelines, enabling you to locate useful information quickly. Organizes guidance on acute and chronic therapies in a templated format, to facilitate consistent, quick-access consultation appropriate for inpatient or outpatient pain management. Features a 2-color format that enhances readability and ease of use and highlights key concepts. Your purchase entitles you to access the web site until the next edition is published, or until the current edition is no longer offered for sale by Elsevier, whichever occurs first. If the next edition is published less than one year after your purchase, you will be entitled to online access for one year from your date of purchase. Elsevier reserves the right to offer a suitable replacement product (such as a downloadable or CD-ROM-based electronic version) should access to the web site be discontinued. |
| fabry disease enzyme replacement therapy: Enzymes as Drugs John S. Holcenberg, Joseph Roberts, 1981 |
| fabry disease enzyme replacement therapy: The Man Behind the Syndrome Peter Beighton, Greta Beighton, 2012-12-06 The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used. |
| fabry disease enzyme replacement therapy: 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 |
| fabry disease enzyme replacement therapy: National Kidney Foundation Primer on Kidney Diseases Scott J. Gilbert, Daniel E. Weiner, Debbie S. Gipson, Mark A. Perazella, Marcello Tonelli, 2014 Preceded by (work): Primer on kidney diseases. 5th ed. c2009. |
| fabry disease enzyme replacement therapy: The Urinary Sediment Giovanni B. Fogazzi, Claudio Ponticelli, Eberhard Ritz, 1999 From review from the Lancet of the first edition in comparison with a competing title: 'Every nephrologist knows and teaches that urine microscopy is an important diagnostic aid. What has been urgently needed is a colour guide to the subject.....I preferred the pictures in the European book. They were of high quality, not repetitive and with clear legends...if I wanted to teach myself.. then the European book was well ahead. The latter is also accompanied by an elegant introductory essay by JS Cameron on the history of urine analysis. Every renal unit needs at least one of these books.' The Lancet' These few comments should not obscure the significant contribution of The Urinary Sediment to the diagnostic armamentarium of the nephrologist. Each renal unit should have a copy for daily clinical discussions...Finally this book should be included in the required reading list of courses in renal medicine.' Nephrology Dialysis TransplantationThis is the second edition of a full colour reference atlas published first to excellent reviews in 1994. Every renal unit needs to have a reference text of this kind and urine microscopy is an important diagnostic aid in nephrology. After the 'Historical Introduction' by J Stewart Cameron, chapter 1 descibes the methods used to prepare and analyse the urine samples. Chapter 2, which is the most important section of the book, describes with the help of 249 illustrations (over 200 in full colour) the elements of the urinary sediment. Chapter 3 deals with the urinary sediment of the normal subject, while chapter 4 deals with the urinary changes which are observed in the main diseases of the kidney and urinary tract. Chapter 5 describes the changes of the urinary sediment caused by drugs. Chapter 6 is about the interpretation of the urinary findings shown in the previous chapters. Chapter 7 covers the new systems to analyse the urinary sediments. An appendix shows how to adjust the microscope to analyse the urine specimens. The primary audience is practising nephrologists and nephrologists in training, and also those in internal medicine rotating through the renal unit who perform routinely the analysis of the urinary sediment. Clinical pathologists would also find this an attractive and useful book. The illustrations are outstanding and additional clinical information has been added in this new edition. From review from the Lancet of the first edition in comparison with a competing title: 'Every nephrologist knows and teaches that urine microscopy is an important diagnostic aid. What has been urgently needed is a colour guide to the subject.....I preferred the pictures in the European book. They were of high quality, not repetitive and with clear legends...if I wanted to teach myself.. then the European book was well ahead. The latter is also accompanied by an elegant introductory essay by JS Cameron on the history of urine analysis. Every renal unit needs at least one of these books.' The Lancet |
| fabry disease enzyme replacement therapy: The ESC Textbook of Cardiovascular Medicine A. John Camm, 2019 |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Clinical Autonomic Disorders Low, Greg, Phillip A. Low, 2015-04-24 Thoroughly updated for its Third Edition, this text will be the definitive reference on autonomic nervous system disorders, for practicing and academic neurologists and clinicians in such areas as cardiology and gastroenterology where autonomic disorders are prevalent. The book focuses on patient care and provides the sophisticated laboratory testing information necessary for clinical diagnosis and management.This edition has a new co-editor, Eduardo E. Benarroch, MD, who provides more detailed information on the role of the central nervous system in autonomic disorders. The book incorporates the latest advances in noninvasive laboratory testing to evaluate abnormalities in the control of blood pressure, heart rate, urination, digestion, sexual function, and sweating. |
| fabry disease enzyme replacement therapy: Hurst's the Heart , 1990 |
| fabry disease enzyme replacement therapy: Metabolic and Molecular Bases of Inherited Diseases: Single Chapter Reprint from 0071163360 Charles R. Scriver, 2002-06 |
| fabry disease enzyme replacement therapy: Nephrology in a Nutshell Walter Samtleben, Thomas Bosch, Ulf Schönermarck, 2007 |
| fabry disease enzyme replacement therapy: 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. |
| fabry disease enzyme replacement therapy: Fabry Disease Atul B. Mehta, Michael Beck, Gere Sunder-Plassmann, 2006-01-01 Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life. |
| fabry disease enzyme replacement therapy: Fabry Disease: New Insights for the Healthcare Professional: 2012 Edition , 2012-12-10 Fabry Disease: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Fabry Disease in a compact format. The editors have built Fabry Disease: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Fabry Disease in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Fabry Disease: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/. |
Fabry Disease: Symptoms & Causes - Cleveland Clinic
Aug 21, 2023 · Fabry disease is a rare genetic condition in which you don’t produce enough healthy versions of an enzyme called alpha-galactosidase A (alpha-GAL). Learn about the …
Fabry disease - Wikipedia
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one …
Fabry Disease - GeneReviews® - NCBI Bookshelf
Aug 5, 2002 · Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive …
Fabry disease | About the Disease | GARD - Genetic and Rare ...
Fabry disease is a type of lysosomal storage disease. Lysosomes are round structures found in the cells of the body that are full of special proteins called enzymes. Lysosomal enzymes help …
Fabry Disease: Symptoms, Treatment, and Prognosis - Healthline
Oct 14, 2024 · Fabry disease (FD) is a rare inherited disease. It’s progressive and can be life threatening. FD is the result of a damaged gene that leads to a shortage of an essential …
FSIG – Fabry Support & Information Group
It is the mission of the Fabry Support & Information Group (FSIG) to raise awareness of Fabry disease and its symptoms, to advocate for community needs and to lead the fight for the most …
FabryFacts.com | Fabry Disease Resources for Healthcare ...
Fabry disease is an X-linked lysosomal disorder. Learn more about this disease, including symptoms, genotypes, phenotypes, diagnosis, and genetic testing. Fabry disease resources …
Fabry Disease: Symptoms & Causes - Cleveland Clinic
Aug 21, 2023 · Fabry disease is a rare genetic condition in which you don’t produce enough healthy versions of an enzyme called alpha-galactosidase A (alpha-GAL). Learn about the …
Fabry disease - Wikipedia
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one …
Fabry Disease - GeneReviews® - NCBI Bookshelf
Aug 5, 2002 · Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive …
Fabry disease | About the Disease | GARD - Genetic and Rare ...
Fabry disease is a type of lysosomal storage disease. Lysosomes are round structures found in the cells of the body that are full of special proteins called enzymes. Lysosomal enzymes help …
Fabry Disease: Symptoms, Treatment, and Prognosis - Healthline
Oct 14, 2024 · Fabry disease (FD) is a rare inherited disease. It’s progressive and can be life threatening. FD is the result of a damaged gene that leads to a shortage of an essential …
FSIG – Fabry Support & Information Group
It is the mission of the Fabry Support & Information Group (FSIG) to raise awareness of Fabry disease and its symptoms, to advocate for community needs and to lead the fight for the most …
FabryFacts.com | Fabry Disease Resources for Healthcare ...
Fabry disease is an X-linked lysosomal disorder. Learn more about this disease, including symptoms, genotypes, phenotypes, diagnosis, and genetic testing. Fabry disease resources …
