Molecular Basis of Lysosomal Storage Disorders contains the proceedings of the 1983 Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health in Bethesda, Maryland. The papers focus on the molecular biology of, and therapeutic approaches to, lysosomal storage disorders, such as mucopolysaccharidoses, sphingolipidoses, and Gaucher disease. Organized into six sections comprised of 29 chapters, this book begins with an overview of enzymes, activator proteins, and stabilizers that underlie lysosomal storage disorders. It then discusses some developments in enzyme purification, receptors for glycoprotein enzymes, factors that control endocytosis, and the intracellular fate of lysosomal hydrolases. Some chapters explain the enzyme biosynthesis, bone marrow transplantation, and enzyme replacement, along with cell hybridization, chromosome localization, phenotype discrimination, and cloning of genes for human lysosomal enzymes. This book is helpful to biochemists, physiologists, pathologists, geneticists, clinical investigators, and practicing physicians concerned with the study, care, and treatment of patients with hereditary metabolic disorders, as well as undergraduate and graduate level students involved in research in this discipline.

The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.

To address the exponential growth in the fields of pediatric hematology and oncology, this classic reference has been separated into two distinct volumes. With this volume, devoted strictly to pediatric hematology, and another to pediatric oncology, you’ll keep you on the cutting-edge of these two specialties. The completely revised 7th edition of Nathan and Oski’s Hematology of Infancy and Childhood is now in full color, and provides you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children with hematologic disorders. It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of blood diseases that you encounter in everyday practice. Written by the leading names in pediatric hematology, this resource is an essential tool for anyone involved in caring for children with hematologic disorders. Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. Offers comprehensive coverage of all hematologic disorders, including newly recognized ones, along with the latest breakthroughs in diagnosis and management. Uses many boxes, graphs, and tables to highlight complex clinical diagnostic and management guidelines at a glance. Presents an all-new full-color design that includes clear illustrative examples of relevant science and clinical problems for quick access to the answers you need.

Over the past 15 years, great progress has been made in the research of lysosomal storage diseases. These incurable illnesses have gradually become illnesses for which treatments, or at the very least improvements, have become possible. In addition to stem cell transfusion, other therapeutic approaches have developed. The sooner the treatment is administered, the more effective it is. For this reason, it is essential for paediatricians, surgeons and neurologists to identify these illnesses from onset of the first signs and therefore, sound knowledge is important. The possibility of screening for lysosomal storage diseases during routine neonatal examination is also under consideration. The aim is also to improve the quality of life of patients via specialised centres in which multidisciplinary therapies may be implemented. This work presents the latest epidemiological, biochemical, genetic, and pathogenetic knowledge, the clinical aspects of these illnesses and the different therapeutic options.

Advances in Clinical Chemistry, Volume 77, the latest installment in this internationally acclaimed series, contains chapters authored by world-renowned clinical laboratory scientists, physicians, and research scientists. The serial discusses the latest and most up-to-date technologies related to the field of clinical chemistry and is the benchmark for novel analytical approaches in the clinical laboratory. - Provides the most up-to-date technologies in Clinical Chemistry and Clinical Laboratory Science - Authored by world renowned clinical laboratory scientists, physicians, and research scientist - Presents the international benchmark for novel analytical approaches in the clinical laboratory

To address the exponential growth in the fields of pediatric hematology and oncology, this classic reference has been separated into two distinct volumes. With this volume, devoted strictly to pediatric hematology, and another to pediatric oncology, you'll keep you on the cutting-edge of these two specialties. The completely revised 7th edition of Nathan and Oski's Hematology of Infancy and Childhood is now in full color, and provides you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children with hematologic disorders. It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of blood diseases that you encounter in everyday practice. Written by the leading names in pediatric hematology, this resource is an essential tool for anyone involved in caring for children with hematologic disorders. And, as an Expert Consult title, this thoroughly updated 7th edition comes with access to the complete contents online, fully searchable. Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. Offers comprehensive coverage of all hematologic disorders, including newly recognized ones, along with the latest breakthroughs in diagnosis and management. Uses many boxes, graphs, and tables to highlight complex clinical diagnostic and management guidelines at a glance. Presents an all-new full-color design that includes clear illustrative examples of relevant science and clinical problems for quick access to the answers you need. Provides access to the complete contents online, fully searchable, enabling you to consult it rapidly from any computer with an Internet connection. 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.

Postgraduate Textbook of Pediatrics is a comprehensive guide to paediatrics. The textbook is comprised of three volumes, split into ten parts with over 600 chapters, and contributions from over 50 section editors and 725 authors, covering all paediatric disorders, descriptions of diseases and their management. Includes nearly 1500 images and illustrations in full colour, incorporating information on modern imaging techniques for neurological disorders in children. This is an ideal resource for postgraduate students to gain a firm grounding in, and retain and improve their knowledge of all areas of paediatric medicine.

Lysosomal Storage Disorders Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders In the past few decades, we have witnessed a ‘golden age’ of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include: The general aspects of LSDs, with special attention paid to physiology and pathology Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism The existing and emerging treatments for LSDs Key patient issues such as availability and disease awareness, including in the Third World. For researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.

Drug Delivery Systems for Metabolic Disorders presents the most recent developments on the targeted delivery of drugs to deal with metabolic disorders in a safe, compliant and continuous way. The book covers recent developments in advanced drug delivery systems in various metabolic disorders, including disturbances in protein, lipid, carbohydrate and hormone metabolism and lysosomal and mitochondrial disorders. It provides a brief introduction to metabolic disorders, along with a focus on the current landscape and trends in understanding disease pathology using different in vitro and in vivo models required for clinical applications and developments of new therapeutics. Each subsequent chapter covers drug delivery systems dedicated to metabolic diseases caused by disturbances in protein, lipid, carbohydrate and hormone metabolism. Then, it moves on to cover lysosomal storage disorders and applications of phytopharmaceuticals in this context. This is the perfect reference for researchers in pharmaceutical science who are interested in developing new treatments for metabolic diseases. - Offers comprehensive coverage of drug delivery to treat metabolic diseases - Provides insights into how advanced drug delivery systems can be effectively used for the management of various types of metabolic disorders - Includes the most recent research on diagnostic methods and treatment strategies using controlled drug delivery systems

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.