Genetic and Metabolic Disease in Pediatrics PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genetic and Metabolic Disease in Pediatrics PDF full book. Access full book title Genetic and Metabolic Disease in Pediatrics by June Kathleen Lloyd. Download full books in PDF and EPUB format.
Author: June Kathleen Lloyd
Publisher: Butterworth-Heinemann
ISBN:
Category : Medical
Languages : en
Pages : 344
Get Book Here
Book Description
Genetic and Metabolic Disease in Pediatrics ...
Author: June Kathleen Lloyd
Publisher: Butterworth-Heinemann
ISBN:
Category : Medical
Languages : en
Pages : 344
Get Book Here
Book Description
Genetic and Metabolic Disease in Pediatrics ...
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
Get Book Here
Book Description
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
Get Book Here
Book Description
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.
Author: Nenad Blau
Publisher: Springer
ISBN: 3642403379
Category : Medical
Languages : en
Pages : 880
Get Book Here
Book Description
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.
Author: Juerg Hodler
Publisher: Springer Nature
ISBN: 303038490X
Category : Medical
Languages : en
Pages : 252
Get Book Here
Book Description
This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.
Author: William L Nyhan
Publisher: CRC Press
ISBN: 1138196606
Category : Medical
Languages : en
Pages : 871
Get Book Here
Book Description
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
Author: Victor Dubowitz
Publisher: Cambridge University Press
ISBN: 9780521412032
Category : Family & Relationships
Languages : en
Pages : 178
Get Book Here
Book Description
The second edition of The Floppy Infant is devoted to the recognition and diagnosis of the floppy infant syndrome. It includes a review of some of the more important causes and provides a practical approach to the assessment and management such children require. The text of the first edition has been completely revised, but the emphasis has not changed: it remains an immensely practical and up-to-date handbook for the clinician.
Author: Edith Louise Potter
Publisher: Mosby
ISBN:
Category : Medical
Languages : en
Pages : 1074
Get Book Here
Book Description
This comprehensive reference addresses all aspects of fetal and neonatal pathology, including complicated pregnancies, multiple pregnancies, abortion, placental pathology, and disorders affecting the full-term neonate. A consistent organization allows for quick access to specific guidance, and nearly 2,500 illustrations - 2,350 in full color - depict conditions and abnormalities as they present in practice, facilitating diagnosis. An Image Bank on CD-ROM - new to this edition - features all of the illustrations from the 2-volume set, downloadable for presentations. Offers comprehensive coverage of all common and rare embryonic, fetal, and infant disorders in one source. Correlates clinical, pathologic, and genetic findings for each systemic disease. Emphasizes the genetic and molecular basis of birth defects. Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. Provides the latest guidance on molecular pathology, immunohistochemistry, DNA technology, and more. Offers an expanded discussion of developmental biology related to the pathogenesis of birth defects. Features user-friendly summary tables and diagnostic flow charts, making information quick and easy to find. Includes a CD-ROM featuring all of the illustrations from the 2-volume set.
Author: Edward C.C. Wong
Publisher: Academic Press
ISBN: 0128179635
Category : Science
Languages : en
Pages : 1172
Get Book Here
Book Description
Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Author: Gilles Lyon
Publisher: McGraw Hill Professional
ISBN: 0071491996
Category : Medical
Languages : en
Pages : 553
Get Book Here
Book Description
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 the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups
