Spinal Muscular Atrophy - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Spinal Muscular Atrophy write by Charlotte J Sumner. This book was released on 2016-10-24. Spinal Muscular Atrophy available in PDF, EPUB and Kindle. Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA Includes outstanding questions and perspectives for future investigations and key references for additional detailed study
Progressive Spinal Muscular Atrophies
Progressive Spinal Muscular Atrophies - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Progressive Spinal Muscular Atrophies write by Ingrid Gamstorp. This book was released on 1984. Progressive Spinal Muscular Atrophies available in PDF, EPUB and Kindle.
NORD Guide to Rare Disorders
NORD Guide to Rare Disorders - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook NORD Guide to Rare Disorders write by National Organization for Rare Disorders. This book was released on 2003. NORD Guide to Rare Disorders available in PDF, EPUB and Kindle. NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Neurodegeneration
Neurodegeneration - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Neurodegeneration write by Anthony Schapira. This book was released on 2017-02-13. Neurodegeneration available in PDF, EPUB and Kindle. This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors
Cassidy and Allanson's Management of Genetic Syndromes
Cassidy and Allanson's Management of Genetic Syndromes - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Cassidy and Allanson's Management of Genetic Syndromes write by John C. Carey. This book was released on 2021-01-27. Cassidy and Allanson's Management of Genetic Syndromes available in PDF, EPUB and Kindle. MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
