Inborn Errors Of Development
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Epstein S Inborn Errors Of Development
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Author : Robert P. Erickson MD
language : en
Publisher: Oxford University Press
Release Date : 2016-06-30
Epstein S Inborn Errors Of Development written by Robert P. Erickson MD and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-30 with Medical categories.
This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.
Inborn Errors Of Development
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Author : Charles J. Epstein
language : en
Publisher: Oxford University Press, USA
Release Date : 2004
Inborn Errors Of Development written by Charles J. Epstein and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medical categories.
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Inborn Errors Of Development
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Author : Charles J. Epstein
language : en
Publisher:
Release Date : 2023
Inborn Errors Of Development written by Charles J. Epstein and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023 with Developmental disabilities categories.
Disorders that affect tissue differentiation, organogenesis and morphogenesis constitute a significant proportion of human hereditary diseases. This volume presents in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified.
Epstein S Inborn Errors Of Development
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Author : Robert P. Erickson
language : en
Publisher:
Release Date : 2016
Epstein S Inborn Errors Of Development written by Robert P. Erickson and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Developmental disabilities categories.
Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.
Inborn Metabolic Diseases
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Author : K. Tada
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-14
Inborn Metabolic Diseases written by K. Tada and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-14 with Medical categories.
Five years after its predecessor, the second edition of Inborn Metabolic Diseases: Diagnosis and Treatment is appearing in an almost completely revised form. Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. For that reason, clinical approach has not only remained the central theme of the first chapter, but also become the starting point for all chapters dealing with either a single specific disorder or a group of diseases. Particular attention has been paid to clinical presentation under acute, subacute or chronic forms, to the appearance of initially aspecific symptoms evolving into a more characteristic syn drome at a later age, or vice versa, to clinical heterogeneity and its relation to genetic and biochemical heterogeneity. Brief reference to other diagnostic possibilities is also given in all disease-related chapters. Description of the metabolic derangements is restricted to the main pathophysiological features which provide the rationale for diagnosis and treatment. Methods to ascertain the diagnosis and diagnostic tests are listed comprehensively. As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. The impressive progress of knowledge with respect to genetic lesions in inborn errors of metabolism remains condensed to the essentials. For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995).
A Clinical Guide To Inherited Metabolic Diseases
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Author : Joe T. R. Clarke
language : en
Publisher: Cambridge University Press
Release Date : 2002-07-11
A Clinical Guide To Inherited Metabolic Diseases written by Joe T. R. Clarke and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002-07-11 with Medical categories.
A clinically organized, user-friendly, handbook on inherited metabolic diseases and their diagnosis.
The Metabolic Molecular Bases Of Inherited Disease
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Author :
language : en
Publisher:
Release Date : 2001
The Metabolic Molecular Bases Of Inherited Disease written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Genetic disorders categories.
Mental Retardation And Developmental Delay
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Author : Moyra Smith
language : en
Publisher: Oxford University Press
Release Date : 2006
Mental Retardation And Developmental Delay written by Moyra Smith and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006 with Medical categories.
Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, which newly propels investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Introductory chapters cover normal and abnormal brain structure, neurogenesis, neuronal proliferation, and signal transduction. Latter chapters delve into discussions of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells.
Nelson Textbook Of Pediatrics E Book
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Author : Robert M. Kliegman
language : en
Publisher: Elsevier Health Sciences
Release Date : 2015-04-17
Nelson Textbook Of Pediatrics E Book written by Robert M. Kliegman and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-04-17 with Medical categories.
After more than 75 years, Nelson Textbook of Pediatrics remains your indispensable source for definitive, state-of-the-art answers on every aspect of pediatric care. Embracing the new advances in science as well as the time-honored art of pediatric practice, this classic reference provides the essential information that practitioners and other care providers involved in pediatric health care throughout the world need to understand to effectively address the enormous range of biologic, psychologic, and social problems that our children and youth may face. Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. A NEW layout provides superior portability and exceptional ease of use. Gain a more complete perspective. Along with a broader emphasis on imaging and molecular diagnoses and updated references, the new edition includes an increased focus on international issues to ensure relevance in pediatrics practice throughout the world. Effectively apply the latest techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia ; Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare−Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly; CNS Vasculitis; Anterior Cruciate Ligament Rupture; and Sports-Related Traumatic Brain Injury. Recognize, diagnose, and manage genetic and acquired conditions more effectively. A new Rehabilitation section with 10 new chapters, including: Evaluation of the Child for Rehabilitative Services; Severe Traumatic Brain Injury; Spinal Cord Injury and Autonomic Crisis Management; Spasticity; Birth Brachial Plexus Palsy; Traumatic and Sports-Related Injuries; Meningomyelocele; Health and Wellness for Children with Disabilities. Manage the transition to adult healthcare for children with chronic diseases through discussions of the overall health needs of patients with congenital heart defects, diabetes, and cystic fibrosis. Understand the principles of therapy and which drugs and dosages to prescribe for every disease.
Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer
Release Date : 2014-07-08
Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases written by Nenad Blau and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-08 with Medical categories.
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.