Welcome to our book review site go-pdf.online!
You may have to Search all our reviewed books and magazines, click the sign up button below to create a free account.
Lysosomal Storage Disorders
This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development ...
Neurology of Hereditary Metabolic Diseases of Children: Third Edition
The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of...
Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults
This reprint, entitled "Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities", covers broad aspects of this group of rare diseases. The first theme includes articles on the management of pain, corneal clouding, gastrointestinal and airway diseases in Mucopolysaccharidoses and Mucolipidoses, and the evaluation of dysphonia in Pompe disease. Additionally, attention deficit and ADHD and the management of atherosclerosis in Fabry disease are considered here. The second theme includes diagnostic conundrums in lysosomal storage diseases, e.g., the prenatal diagnosis of Gaucher disease during pregnancy, the dia...
Lysosomal Storage Diseases
This monograph presents an overview of the lysosome and its different roles in the maintenance of cellular homeostasis. It also provides a description of the various pathophysiologic changes associated with the lysosomal storage disorders. Therapeutic considerations and aspects relating to genetic counselling are covered in the final section. Several diagrams are provided to facilitate greater understanding of relevant themes. Additionally, contextual material is given at the end of each chapter, which elaborates on some of the entries brought up in the discussions. The book is written by an expert in the field who has been engaged in basic and clinical research. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive examination of the relevant topics. Issues covered should appeal to both the basic scientist and the clinician.
Neurogenetics for the Practitioner
Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis Explores various therapeutic strategies based on genetic interventions Discusses when a neurologic problem may have an underlying genetic cause
JIMD Reports, Volume 42
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.
Swaiman's Pediatric Neurology - E-Book
Swaiman's Pediatric Neurology - E-Book
Motor System Disorders, Part II
This comprehensive review of research and best practice clinical management of spinal cord, neurodegenerative, and cerebral disorders is intended for both researchers and clinicians. Encompassing hereditary and acquired disorders from disease and accident, the book explores motor control disorders associated with stroke, dementia, seizure, encephalitis, and more. Covering disorders of both children and adults, the book discusses the latest advances in treatments related to neuroplasticity, neural tissue transplantation, and immunotherapy. Summarizes assessment, disease course, and best practice treatment Includes hereditary disorders and disorders from disease or accident Discusses advances in neuroplasticity, tissue transplantation, immunotherapy, and other treatments Reviews effects of dementia, stroke, seizure, encephalitis, cancer, and more
Neurochemical Mechanisms in Disease
This newest volume of Advances in Neurobiology deals with the Neurochemistry of disease, with chapters covering both human diseases and animal “model” diseases.
