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Author : Vincent C. Kelley
Publisher : Unknown
Page : 572 pages
File Size : 55,8 Mb
Release : 1974
Category : Electronic
ISBN : OCLC:258615915
Author : Vincent C. Kelley
Publisher : Unknown
Page : 600 pages
File Size : 55,8 Mb
Release : 1974
Category : Children
ISBN : UOM:39015003233734
Author : Lytt I. Gardner
Publisher : Unknown
Page : 1140 pages
File Size : 40,7 Mb
Release : 1969
Category : Children
ISBN : UOM:39015057703897
Author : Roy E. Weiss,Samuel Refetoff
Publisher : Academic Press
Page : 472 pages
File Size : 44,7 Mb
Release : 2015-10-09
Category : Medical
ISBN : 9780128011348
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Author : Constantine A. Stratakis
Publisher : Elsevier Health Sciences
Page : 128 pages
File Size : 42,9 Mb
Release : 2017-05-11
Category : Medical
ISBN : 9780323530064
This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.
Author : Lytt Irvine Gardner
Publisher : Unknown
Page : 1072 pages
File Size : 43,8 Mb
Release : 1969
Category : Electronic
ISBN : OCLC:397753598
Author : Fima Lifshitz
Publisher : CRC Press
Page : 1352 pages
File Size : 55,7 Mb
Release : 2006-12-26
Category : Medical
ISBN : 9781420042733
Celebrating more than twenty years as the single best source in the field, this Fifth Edition has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 renowned contributors that comprehensively address every topic and trend relevant to the identification, diagnosis, and management of endocrine and endocrin
Author : Elizabeth Bundock,Tracey Corey
Publisher : Unknown
Page : 128 pages
File Size : 54,5 Mb
Release : 2019-11-08
Category : Electronic
ISBN : 0998904325
This publication reviews medicolegal investigation of sudden, unexpected pediatric deaths, focusing on systems and procedures in the United States and those deaths which remain incompletely understood or entirely unexplained. It discusses the evolution of our understanding and practice in the area of sudden, unexpected pediatric death investigation, covering the changing philosophies and medical theories as to causation and changing investigative and certification strategies. Procedural guidance for investigation, autopsy and ancillary testing, certification and reporting, and key considerations for prevention, research and working with family members and other professional team members are provided.The path to production of this publication began in 2016 when the National Association of Medical Examiners received a scientific grant from the SUDC Foundation called "Sudden Death in Pediatrics: Consensus for Investigation, Certification, Research Direction and Family Needs" to convene, in collaboration with the American Academy of Pediatrics, an expert panel to identify and discuss the diverse issues and limitations surrounding these deaths and build a foundation for national consensus. The combined effort of a panel of medical examiners, pediatricians, and federal agency representatives, representing the diverse interests of death investigation, autopsy performance, certification, clinical subspecialties (pediatrics, neurology, cardiology, child abuse, injury prevention, infectious diseases, genetics, and metabolic diseases), family needs, prevention, and epidemiology, culminated in this publication.
Author : Kyriakie Sarafoglou,Georg F. Hoffmann,Karl S. Roth
Publisher : McGraw Hill Professional
Page : 966 pages
File Size : 47,7 Mb
Release : 2012-09-01
Category : Medical
ISBN : 9780071811576
Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines
Author : Stephen O'Rahilly,David B. Dunger
Publisher : Society for Endocrinology
Page : 188 pages
File Size : 50,8 Mb
Release : 1999-01-01
Category : Diabetes in children
ISBN : 1901978060
Endocrine problems in children can be very distressing, not only for the patients concerned, but also for those close to them. Thanks to advances in the understanding of the genetic basis of disease and improved techniques for studying conditions at the molecular level, the mechanisms behind these problems are now far more widely understood.
Author : Robert Rapaport
Publisher : Clinics: Internal Medicine
Page : 0 pages
File Size : 48,8 Mb
Release : 2009
Category : Medical
ISBN : 1437712134
This two-part issue of the Endocrinology and Metabolism Clinics of North America brings the practicing endocrinologist up to date on the most important topics in pediatric endocrinology. Part I covers genomics: genetic disorders and new techniques; newborn screening; hormones in the premature infant; congenital disorders of the thyroid: hyper/hypo; glucose in the PIC setting; diabetes prevention; obesity: etiology, prevention, and treatment; metabolic syndrome in pediatrics; complementary and alternative medicine in pediatric endocrinology; imaging in pediatric endocrine dosoirders; U/S gonads; and global epidemiology of Type 1 diabetes.
Author : National Cholesterol Education Program (U.S.). Expert Panel on Blood Cholesterol Levels in Children and Adolescents
Publisher : Unknown
Page : 14 pages
File Size : 47,5 Mb
Release : 1991
Category : Children
ISBN : PURD:32754063680577
Author : J. Allgrove,N.J. Shaw
Publisher : Karger Medical and Scientific Publishers
Page : 434 pages
File Size : 54,7 Mb
Release : 2015-06-11
Category : Medical
ISBN : 9783318054675
There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.
Author : Merlin Butler,Phillip D.K. Lee,Barbara Y. Whitman
Publisher : Springer Science & Business Media
Page : 569 pages
File Size : 44,6 Mb
Release : 2006-10-11
Category : Medical
ISBN : 9780387335360
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Author : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Publisher : IOS Press
Page : 960 pages
File Size : 42,5 Mb
Release : 2017-01-06
Category : MEDICAL
ISBN : 9781614997184
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
