Download or read book Gaucher Disease written by Anthony H. Futerman and published by CRC Press. This book was released on 2006-07-07 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Gaucher s Disease written by Lunawati L. Bennett and published by . This book was released on 2020-07-13 with total page 169 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.

Download or read book Understanding Gaucher Disease written by Carol Kari and published by . This book was released on 1990 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book GAUCHER DISEASE written by and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Gaucher Disease written by Marian E. Beratan and published by . This book was released on 1995 with total page 48 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Human Pathobiochemistry written by Toshitaka Oohashi and published by Springer. This book was released on 2019-03-13 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Fabry Disease written by Deborah Elstein and published by Springer Science & Business Media. This book was released on 2010-08-02 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Gaucher Disease New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 27 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Gaucher Disease in a compact format. The editors have built Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Gaucher 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 Gaucher Disease: New Insights for the Healthcare Professional: 2011 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/.

Download or read book Gaucher s Disease New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Sphingolipidoses in a compact format. The editors have built Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Sphingolipidoses 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 Gaucher's Disease: New Insights for the Healthcare Professional: 2011 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/.

Download or read book Pulmonary Vascular Disorders written by Marc Humbert and published by Karger Medical and Scientific Publishers. This book was released on 2012 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Federal and Private Roles in the Development and Provision of Alglucerase Therapy for Gaucher Disease written by Alan M. Garber and published by . This book was released on 1992 with total page 48 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Inborn Disorders of Sphingolipid Metabolism written by Stanley M. Aronson and published by Elsevier. This book was released on 2017-01-31 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Understanding Gaucher Disease written by Carol Kari and published by . This book was released on 1988 with total page 8 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Gaucher Disease written by Claus Niederau and published by . This book was released on 2006 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.