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| gaucher disease enzyme replacement therapy: Gaucher Disease Anthony H. Futerman, Ari Zimran, 2006-07-07 In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto |
| gaucher disease enzyme replacement therapy: Gaucher's Disease Lunawati L. Bennett, 2020-07-13 Gaucher's Disease: From Diagnosis to Treatment was designed as an educational resource for all professionals involved in the care of patients with Gaucher disease (GD). Chapter 1 is an introduction about GD. GD is the most common autosomal recessive lysosomal storage disease (LSD) due to the deficiency or absence of the activity of enzyme glucosylceramidase (GCase) or also known as acid- glucosidase (GBA1) or uridine phosphate glucosylceramide synthase (UDP-GLC). Defects in these enzymes cause miss-sorting or loss function of lysosomal proteins leading to accumulation of glucocerebroside (GLC) in the tissue macrophages monocyte. Accumulation of GLC cause enlargement of the spleen, destruction of bone, anemia, thrombocytopenia, and abnormalities of the lungs. GD is classified into three types: type 1 GD (GD1) is a chronic and non-neuronopathic accounting for 95% of GD cases, and types 2 and 3 (GD2, GD3) involves nerve cell destruction causing acute brainstem dysfunction or progressive neuroleptic deterioration, respectively. Chapter 1 review disease classification, epidemiology, pathophysiology, and clinical manifestations of GD.Chapter 2 discusses GD diagnosis and clinical presentations from prenatal, newborn, first year of life, childhood, adolescence, and adulthood patients suspected to have GD. Several biomarkers, tools used to detect abnormal biomarkers such as chitotriosidase, pulmonary and activation-regulated chemokines, and other inflammatory markers are discussed, in addition to methods used to detect these biomarkers. Chapter 3 highlights available enzyme replacement therapy (ERT), clinical trials, dosing, and adverse drug reaction of each ERT, pregnancy information, and effect of ERT on endocrine and metabolic profiles. Chapter 4 discusses available substrate reduction therapy (SRT), clinical trials, dosing, adverse drug reaction, pregnancy information, drug-drug interaction and patients' polymorphism profiles that influence the dosing of SRT. Chapter 5 discusses type 2 and 3 GD which are the neuronopathic variants of the GD, genotype and phenotype of the patients, role of ERT or SRT or gene therapy, chaperone therapy, and hematopoietic stem cell transplantation. Chapter 6 discusses common complication of GD such as bone and hepatocellular abnormalities, increased risk of cancer and Parkinson Disease development. Chapter 7 highlights several novel therapies with their mechanisms of action, details regarding ongoing or completed clinical trials such as newer SRT lucerastat which is on clinical trials for possible use in GD3. At this time, there are no drugs available to treat GD2 or GD3. Promising novel therapy include pharmacology chaperone (PC), antioxidants, and gene therapy. There are 2 PCs currently being tested in clinical trial, ambroxol and arimoclomol. Ambroxol, an over the counter drugs has been used to treat various airway infections, showed promising result to cross blood brain barrier that provide promising options for GD3 treatment. |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: Natural Autoantibodies Yehuda Shoenfeld, David A. Isenberg, 1992-12-07 Natural Autoantibodies provides an in-depth analysis of all aspects of natural antibodies. The book examines the advantages and pitfalls of every type of technique that is widely used for detecting autoantibodies. It also covers the sequencing of human autoantibody genes, discussing how sequencing is undertaken and the genetic clues available to elucidate the genetic origins of autoimmunity. Animal models of autoimmunity are also covered, and the up-to-date account provided in this book explains how natural autoantibodies have important regulatory functions and also occasionally serve as templates for autoimmunity. Other topics examined in Natural Autoantibodies: Their Physiological Role and Regulatory Significance include idiotypes of natural autoantibodies; the pathogenic role of natural autoantibodies; and methods to measure the effects of genetic and sex hormones, as well as aging, on natural autoantibodies. The book will be an excellent research tool and reference for immunologists, rheumatologists, and others interested in the topic. |
| gaucher disease enzyme replacement therapy: Birth Defects Original Article Series , 1965 |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: Gaucher Disease, a Century of Delineation and Research Robert J. Desnick, Shimon Gatt, Gregory A. Grabowski, 1982 |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: Challenging Cases in Dermatology Volume 2 Mohammad Ali El-Darouti, Faiza Mohamed Al-Ali, 2019-08-28 This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases. |
| gaucher disease enzyme replacement therapy: Mayo Clinic Internal Medicine Board Review Questions and Answers Robert D. Ficalora, 2013-08-15 Companion volume to: Mayo Clinic internal medicine board review. 10th ed. c2013. |
| gaucher 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. |
| gaucher 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. |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: Pocket Handbook of GI Pharmacotherapeutics George Y. Wu, Achilles Pappano, 2009-04-05 Although there are many pharmacology texts, and electronic sources of drug information relating to GI disorders, they are frequently encyclopedic, and practical information can be difficult to find. In Pocket Handbook of GI Pharmacotherapeutics, George Wu and Achilles Pappano create a text that combines the current treatment protocols and practical pharmacological information of prominent GI disorders for the first time. Chapters are disease specific, and contain treatment algorithms and therapy guides that present all the essential information in a compact, easy to reference handbook. The text contains practical clinical information in a highly accessible format, including keys for relative costs and the FDA pregnancy rating system for drug safety. Informative and unique, Pocket Handbook of GI Pharmacotherapeutics is a must have reference for any internist, gastroenterologist or general practioner who endeavors to provide better treatment of their patients. |
| gaucher disease enzyme replacement therapy: Rare Diseases Meral Özgüç, 2014-09-08 This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent “proof-of-principles” for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, “doctor-patient” collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value. |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: Medical Biochemistry Miriam D. Rosenthal, Robert H. Glew, 2011-09-20 Metabolism includes various pathways of chemical reactions; understanding these pathways leads to an improved knowledge of the causes, preventions, and cures for human diseases. Medical Biochemistry: Human Metabolism in Health and Disease provides a concise yet thorough explanation of human metabolism and its role in health and diseases. Focusing on the physiological context of human metabolism without extensive consideration of the mechanistic principles of underlying enzymology, the books serves as both a primary text and resource for students and professional in medical, dental, and allied health programs. |
| gaucher disease enzyme replacement therapy: 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 |
| gaucher disease enzyme replacement therapy: Pulmonary Vascular Disorders Marc Humbert, R. Souza, Gérald Simonneau, 2012 An excellent overview of recent advances in diagnosis, classification and treatment The pulmonary circulation is by nature difficult to evaluate for the clinician and a challenge to investigate by radiographic and hemodynamic methods. In recent years, the field has been revolutionized by major improvements in diagnostic approaches and therapies. Tools for the classification, diagnosis, and management of pulmonary embolism and pulmonary hypertension have been developed and optimized, providing clinicians with detailed and updated guidelines. This volume provides the latest information on the fast-growing and challenging field of acute and chronic pulmonary vascular disorders from some of the field's major leaders in research, education, and care. The topics discussed are relevant to chest physicians, thoracic surgeons, nurses, students, and teachers, and a well-balanced mix of contributions ensures that doctors, clinicians, and institutions from all around the world will find the information presented to be both informative and useful to their situations. |
| gaucher disease enzyme replacement therapy: Modulation of Protein Function , 1979 |
| gaucher disease enzyme replacement therapy: 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. |
| gaucher disease enzyme replacement therapy: Embryo and Fetal Pathology Enid Gilbert-Barness, Diane Debich-Spicer, 2004-05-31 Exhaustively illustrated in color with over 1000 photographs, figures, histopathology slides, and sonographs, this uniquely authoritative atlas provides the clinician with a visual guide to diagnosing congenital anomalies, both common and rare, in every organ system in the human fetus. It covers the full range of embryo and fetal pathology, from point of death, autopsy and ultrasound, through specific syndromes, intrauterine problems, organ and system defects to multiple births and conjoined twins. Gross pathologic findings are correlated with sonographic features in order that the reader may confirm visually the diagnosis of congenital abnormalities for all organ systems. Obstetricians, perinatologists, neonatologists, geneticists, anatomic pathologists, and all practitioners of maternal-fetal medicine will find this atlas an invaluable resource. |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: 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 |
| gaucher disease enzyme replacement therapy: Who's Who in Orthopedics Seyed Behrooz Mostofi, 2005 Who's Who in Orthopedics gives an accurate account of people who were pioneers in the orthopedic world. This is a highly readable text, source of the inspirational and authoritative whose interesting lives and contributions make a comprehensive list of the great and the good in this field. A text for everyone with an interest in orthopedics, namely orthopedic surgeons and trainees, family physicians, medical students, physiotherapists and nurses and other health care workers who deal with orthopedic patients. |
| gaucher 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. |
| gaucher disease enzyme replacement therapy: Surgical Diseases of the Spleen Jonathan R. Hiatt, E.H. Phillips, L. Morgenstern, 2012-12-06 Surgical Diseases of the Spleen written and edited by internationally renowned scientists will be a masterpiece for any institution. It provides an updated multidisciplinary review of diseases of the spleen. Experts in the field have customed their chapters to further ease the readers understanding offering all the information needed to progress in this area. Different sections on basic concepts, specific splenic diseases and operative techniques cover new aspects in immunology, infectious, traumatic and neoplastic conditions. |
| gaucher disease enzyme replacement therapy: 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. |
| gaucher disease enzyme replacement therapy: Understanding Gaucher Disease Carol Kari, 1990 |
| gaucher 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 |
| gaucher disease enzyme replacement therapy: Neonatal and Infant Dermatology E-Book Lawrence F. Eichenfield, Ilona J. Frieden, Erin Mathes, Andrea Zaenglein, 2014-08-25 Neonatal and Infant Dermatology is a unique comprehensive and heavily illustrated reference on the dermatologic diseases of newborns and infants. It includes discussions of common and uncommon conditions seen in infants at birth and in the first few months of life. With over 600 superb photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. - Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. - Get the depth of coverage you need to effectively diagnose skin conditions in neonates and infants. - Expedite effective differential diagnoses with guidance from algorithms, lists, text, boxes and supporting images. - Benefit from the experience of over 60 contributors from around the world lead by Drs. Lawrence F. Eichenfield and Ilona J. Frieden, two of the most important names in the fields of dermatology and pediatrics. - Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. - See what to expect and how to proceed with new, high-quality illustrations and photos that provide even more visual examples of abnormal and normal conditions. - Take it with you anywhere! Access the full text, image library, and more online at Expert Consult. |
| gaucher disease enzyme replacement therapy: Imaging of Arthritis and Metabolic Bone Disease E-Book Barbara N. W. Weissman, 2009-05-09 Get state-of-the-art coverage of the full range of imaging techniques available to assist in the diagnosis and therapeutic management of rheumatic diseases. Written by acknowledged experts in musculoskeletal imaging, this richly illustrated, full-color text presents the latest diagnostic and disease monitoring modalities - MRI, CT, ultrasonography, nuclear medicine, DXA — as well as interventional procedures. You'll find comprehensive coverage of specific rheumatic conditions, including osteoarticular and extraarticular findings. This superb new publication puts you at the forefront of imaging in arthritis and metabolic bone disease — a must have reference for the clinician and imaging specialist. Includes all imaging modalities relevant to rheumatic disease, and applications and contraindications of each, for balanced coverage. Incorporates a user-friendly, consistent full-color format for quick and easy reference. Provides osteoarticular and extra-articular features and findings to show how imaging benefits diagnosis and management of complex rheumatologic conditions. Creates a one-stop shop with comprehensive coverage of imaging for all rheumatic conditions, including metabolic conditions and pediatric disorders. Presents interventional techniques—injections, arthrography, radiofrequency ablation—to create the perfect diagnostic and interventional clinical tool. |
| gaucher disease enzyme replacement therapy: Molecular Neurology Stephen Waxman, 2010-07-26 Why a book on molecular neurology? Molecular neuroscience is advancing at a spectacular rate. As it does so, it is revealing important clues to the pathogenesis and pathophysiology of neurological diseases, and to the therapeutic targets that they present. Medicines work by targeting molecules. The more specific the targeting, the more specific the actions, and the fewer the side effects. Molecular Neurology highlights, for graduate and MD-PhD students, research fellows and research-oriented clinical fellows, and researchers in the neurosciences and other biomedical sciences, the principles underlying molecular medicine as related to neurology. Written by internationally recognized experts, this well-illustrated and well-referenced book presents the most up-to-date principles and disease examples relevant to molecular neurology, and reviews the concepts, strategies, and latest progress in this field. This book will interest anyone studying the molecular basis of neurology, or developing new therapies in neurology. - Describes the newest molecular aspects of neurological disorders - Provides an introduction to neurological disorders for basic scientists - Updates clinicians and clinical researchers on the most recent developments |
| gaucher disease enzyme replacement therapy: Molecular and Genetic Basis of Renal Disease E-Book David B. Mount, Martin R. Pollak, 2007-10-25 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. |
| gaucher disease enzyme replacement therapy: Radiology of Osteoporosis Stephan Grampp, 2008-03-18 This second edition of Radiology of Osteoporosis has been fully updated so as to represent the current state-of-the-art. It provides a comprehensive overview of osteoporosis, the pathologic conditions that give rise to osteoporosis, and the complications that are frequently encountered. A collection of difficult cases involving pitfalls is presented, with guidance to their solution. The book will be invaluable to all with an interest in osteoporosis. |
| gaucher disease enzyme replacement therapy: Pediatric Pharmacotherapy Wieland Kiess, Matthias Schwab, Johannes van den Anker, 2020-07-15 This volume provides readers with the most updated scientific information on the efficacy and safety of medicines for children and adolescents. The book enriches the understanding of pediatric pharmacotherapy for health professionals, regulatory agencies, pharmaceutical companies and learned societies. It contains important information on the pharmacodynamics and pharmacokinetics of drugs. It summarizes the latest investigations on the effects of pharmacological treatments in relation to and dependent on age, gender, fat mass and disease status. Therefore and importantly, this volume reviews the latest data on how pharmacotherapy has to be adjusted and personalized in regards to stages of development and during the pediatric lifespan from neonate through adolescence. In addition, the topic of rare diseases and special challenges for pharmacotherapy will be included and will provide readers with the necessary knowledge to handle complex diseases and treatment strategies especially in relation to pharmacotherapy of rare and orphan diseases. |
| gaucher disease enzyme replacement therapy: Expression Systems Michael R. Dyson, Yves Durocher, 2007 Protein expression is an increasingly important tool for research on gene function. What is needed is not just a lab manual providing established methods as well as the latest state-of-the-art protocols, but also clear advice on what expression system to choose when. Expression Systems: Methods Expressuniquely fills this need. It covers expression across a broad range of systems, including the following. *Baculovirus expression vectors *CHO cells *E. coli *HEK293-EBNA1 cells *Lactococcus lactis and other gram positive bacteria *S. cerevisiae *transfected insect cells *Pichia pastoris *mammalian cells using BacMam viruses *lentiviral vectors *wheat germ cell-free system The book takes the reader through how to make an informed choice of appropriate system, taking into account the protein target, the time involved, the ultimate use of the expressed protein, and the laboratory equipment required. It also provides step-by-step methods for each system. In addition, the book describes the optimisation of expression strategies, expression engineering using ribosome display, and how to select protein variants with improved expression. Every chapter discusses the merits and limitations of the approaches available, describes the key techniques in full practical detail, and provides sensible advice for immediate use at the bench. In summary, Expression Systems: Methods Expressis a comprehensive laboratory manual and information resource for researchers at all levels, from postgraduate student to principal investigator. |
| gaucher disease enzyme replacement therapy: Recent Advances in iPSC Disease Modeling Alexander Birbrair, 2020-07-16 Recent Advances in iPSC Disease Modeling, Volume One addresses how induced pluripotent stem cells can be used to model various diseases. This new volume teaches readers about current advances in the field, describing the use of induced pluripotent stem cells to model several diseases in vitro, and thus enabling us to study the cellular and molecular mechanisms involved in different pathologies. Further insights into these mechanisms will have important implications for our understanding of disease appearance, development and progression. The volume is written for researchers and scientists in stem cell therapy, cell biology, regenerative medicine and organ transplantation specialists. In recent years, remarkable progress has been made in the obtention of induced pluripotent stem cells and their differentiation into several cell types, tissues and organs using state-of-art techniques. Hence, these advantages have facilitated the identification of key targets and further defining on the molecular basis of several disorders. |
| gaucher disease enzyme replacement therapy: The Harriet Lane Handbook , 2015 Trusted by generations of residents and practitioners, The Harriet Lane Handbook remains your first choice for fast, accurate information on pediatric diagnosis and treatment. The first medical reference book written by residents, for residents and reviewed by expert faculty at The Johns Hopkins Hospital, it continues to provide the gold standard in point-of-care clinical information for any health care professional treating pediatric patients. Access the complete contents online at Expert Consult, including frequent updates to the trusted and comprehensive Pediatric Drug Formulary.-- |
| gaucher 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. |
Gaucher disease - Symptoms and causes - Mayo Clinic
Apr 30, 2022 · Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can …
Gaucher's disease - Wikipedia
Gaucher's disease or Gaucher disease (/ ɡ oʊ ˈ ʃ eɪ /) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and …
Gaucher Disease: Symptoms, Causes & Treatment - Cleveland Clinic
Aug 21, 2023 · Gaucher disease (pronounced “go-shay”) is an inherited lysosomal storage disorder (LSD), a type of disease that causes fatty substances (sphingolipids) to build up in …
Gaucher Disease - StatPearls - NCBI Bookshelf
Nov 12, 2023 · Gaucher disease, the most prevalent lysosomal storage disorder, presents with an elevated incidence among Ashkenazi Jews. It is an autosomal recessive inborn error of …
Gaucher disease | About the Disease | GARD - Genetic and Rare …
Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder).
Gaucher Disease - Johns Hopkins Medicine
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty …
What Is Gaucher Disease? | National Gaucher Foundation
Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease if both parents are carriers …
Gaucher Disease - Symptoms, Causes, Treatment | NORD
Sep 9, 2024 · Gaucher Disease (GD) is a lysosomal disorder characterized by an enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low …
What Is Gaucher Disease? Symptoms, Causes, Diagnosis, …
Apr 10, 2023 · Gaucher disease (pronounced “goh-SHAY”) is a genetic disease that causes fatty substances to build up in organs throughout your body, potentially including your brain.
Gaucher Care
A Gaucher disease resource for patients, doctors, and caregivers, including information about types of Gaucher, signs and symptoms, and diagnosis.
Gaucher disease - Symptoms and causes - Mayo Clinic
Apr 30, 2022 · Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly …
Gaucher's disease - Wikipedia
Gaucher's disease or Gaucher disease (/ ɡ oʊ ˈ ʃ eɪ /) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also …
Gaucher Disease: Symptoms, Causes & Treatment - Cleveland Cl…
Aug 21, 2023 · Gaucher disease (pronounced “go-shay”) is an inherited lysosomal storage disorder (LSD), a type of disease that …
Gaucher Disease - StatPearls - NCBI Bookshelf
Nov 12, 2023 · Gaucher disease, the most prevalent lysosomal storage disorder, presents with an elevated incidence among …
Gaucher disease | About the Disease | GARD - Genetic and Rare Disease…
Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in …
Gaucher Disease - Johns Hopkins Medicine
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher …
What Is Gaucher Disease? | National Gaucher Foundation
Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person …
Gaucher Disease - Symptoms, Causes, Treatment | NORD
Sep 9, 2024 · Gaucher Disease (GD) is a lysosomal disorder characterized by an enlarged liver and/or spleen …
What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Tre…
Apr 10, 2023 · Gaucher disease (pronounced “goh-SHAY”) is a genetic disease that causes fatty substances to build up in organs …
Gaucher Care
A Gaucher disease resource for patients, doctors, and caregivers, including information about types of Gaucher, signs and …
