Pediatric Endocrinology and Inborn Errors of Metabolism

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Author :
Publisher : McGraw Hill Professional
ISBN 13 : 0071811575
Total Pages : 966 pages
Book Rating : 4.0/5 (718 download)

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Book Synopsis Pediatric Endocrinology and Inborn Errors of Metabolism by : Kyriakie Sarafoglou

Download or read book Pediatric Endocrinology and Inborn Errors of Metabolism written by Kyriakie Sarafoglou and published by McGraw Hill Professional. This book was released on 2012-09-01 with total page 966 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Endocrinology, Diabetes & Inborn Errors of Metabolism

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Author :
Publisher : Elsevier Health Sciences
ISBN 13 : 0702070939
Total Pages : pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Endocrinology, Diabetes & Inborn Errors of Metabolism by : Will Carroll

Download or read book Endocrinology, Diabetes & Inborn Errors of Metabolism written by Will Carroll and published by Elsevier Health Sciences. This book was released on 2016-10-14 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Endocrinology, Diabetes & Inborn Errors of Metabolism is a new e-book in a collection of subject-themed e-books containing relevant key articles from Paediatrics & Child Health. The e-books provide a perfect source of revision for post-graduate exams in paediatrics and portfolio material for life-long learning. As well as mapping to the requirements of post-graduate training in paediatrics, these e-books also enable anyone with a short-term interest in a specific area to buy individual articles at a price-point that will give affordable access to all readers (from medical students to GPs and practitioners in related areas). The quality of user experience on mobiles, tablets and laptops will be an added bonus for learning on the move. About the journal The parent journal (http://www.paediatricsandchildhealthjournal.co.uk/) is a rolling, continuously updated review of clinical medicine over a 4-year cycle covering all the important topics for post-graduate exams in paediatrics. The journal’s articles are refreshed, updated, augmented or replaced as appropriate each time the subject is due for revision to provide a concise overview of knowledge and practice core to the curriculum. Each article is written by invited experts and overseen by the relevant subject specialist on the Board. A trainee representative on the Board ensures relevance and accessibility for exam candidates.

Oxford Textbook of Endocrinology and Diabetes

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Author :
Publisher : Oxford University Press, USA
ISBN 13 : 0199235295
Total Pages : 2158 pages
Book Rating : 4.1/5 (992 download)

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Book Synopsis Oxford Textbook of Endocrinology and Diabetes by : John A.H. Wass

Download or read book Oxford Textbook of Endocrinology and Diabetes written by John A.H. Wass and published by Oxford University Press, USA. This book was released on 2011-07-28 with total page 2158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its second edition, the Oxford Textbook of Endocrinology and Diabetes is a fully comprehensive, evidence-based, and highly-valued reference work combining basic science with clinical guidance, and providing first rate advice on diagnosis and treatment.

Inherited Metabolic Disease in Adults

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Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Biomarkers in Inborn Errors of Metabolism

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Author :
Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg

Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Inborn Metabolic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Inherited Metabolic Diseases

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Author :
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Phosphate Metabolism

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Publisher : Springer Science & Business Media
ISBN 13 : 1461342171
Total Pages : 611 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Phosphate Metabolism by : Shaul Massry

Download or read book Phosphate Metabolism written by Shaul Massry and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.

Metabolic Diseases

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Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Therapy in Pediatric Dermatology

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Publisher : Springer
ISBN 13 : 3319436309
Total Pages : 468 pages
Book Rating : 4.3/5 (194 download)

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Book Synopsis Therapy in Pediatric Dermatology by : Joyce M.C. Teng

Download or read book Therapy in Pediatric Dermatology written by Joyce M.C. Teng and published by Springer. This book was released on 2016-12-15 with total page 468 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the need for comprehensive review of therapeutic options that are known to be efficacious in the management of cutaneous diseases in children. It summarizes evidence-based literature on clinical responses among pediatric patients, including age-appropriate management strategies. Included is review of the extraordinary developments in understanding of the genetics and pathogenesis of many cutaneous disorders during the past decade, the novel therapeutic options and repurposing of old drugs, and the management of some of the most challenging skin disorders. Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease is a succinct, user-friendly, and up-to-date therapeutic dermatologic textbook for physicians who care for children with skin disorders. Each skin condition is discussed with investigative and treatment recommendations in mind and provided based on extensive review of the literature. This book will provide unbiased, yet concise, information that is valuable to practitioners who manage pediatric patients in their practices.

The Eye in Pediatric Systemic Disease

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Publisher : Springer
ISBN 13 : 3319183893
Total Pages : 836 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis The Eye in Pediatric Systemic Disease by : Alex V. Levin

Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​​This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.

Hormones, Metabolism and the Benefits of Exercise

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Publisher : Springer
ISBN 13 : 3319727907
Total Pages : 108 pages
Book Rating : 4.3/5 (197 download)

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Book Synopsis Hormones, Metabolism and the Benefits of Exercise by : Bruce Spiegelman

Download or read book Hormones, Metabolism and the Benefits of Exercise written by Bruce Spiegelman and published by Springer. This book was released on 2018-03-07 with total page 108 pages. Available in PDF, EPUB and Kindle. Book excerpt: The world is faced with an epidemic of metabolic diseases such as obesity and type 2 diabetes. This is due to changes in dietary habits and the decrease in physical activity. Exercise is usually part of the prescription, the first line of defense, to prevent or treat metabolic disorders. However, we are still learning how and why exercise provides metabolic benefits in human health. This open access volume focuses on the cellular and molecular pathways that link exercise, muscle biology, hormones and metabolism. This will include novel “myokines” that might act as new therapeutic agents in the future.

Pathology of Heart Disease in the Fetus, Infant and Child

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Author :
Publisher : Cambridge University Press
ISBN 13 : 1107116287
Total Pages : 361 pages
Book Rating : 4.1/5 (71 download)

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Book Synopsis Pathology of Heart Disease in the Fetus, Infant and Child by : Michael T. Ashworth

Download or read book Pathology of Heart Disease in the Fetus, Infant and Child written by Michael T. Ashworth and published by Cambridge University Press. This book was released on 2019-08-22 with total page 361 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.

Liver Disease in Children

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Publisher : Cambridge University Press
ISBN 13 : 1139464035
Total Pages : 995 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Liver Disease in Children by : Frederick J. Suchy

Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.

The Metabolic Syndrome

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Publisher : John Wiley & Sons
ISBN 13 : 1444336584
Total Pages : 384 pages
Book Rating : 4.4/5 (443 download)

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Book Synopsis The Metabolic Syndrome by : Christopher D. Byrne

Download or read book The Metabolic Syndrome written by Christopher D. Byrne and published by John Wiley & Sons. This book was released on 2011-08-22 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Metabolic Syndrome is a valuable reference text, covering all aspects of the metabolic syndrome and its constituent diseases including inflammation, oxidation and adipocytokines. This book explains the aetiology, pathogenesis and clinical treatment of all risk factors as well as the relationship with diabetes, non alcoholic fatty liver disease, polycystic ovary syndrome and coronary heart disease. The Metabolic Syndrome has been further improved from the 1st edition that was highly commended in 2006 Annual British Medical Association medical books competition. All chapters from the first edition are fully updated and this new edition contains an increase in international contributions and five new chapters on: Childhood obesity and metabolic syndrome Bariatric surgery for obesity Fitness Brain insulin resistance and appetite The nature of the insulin resistance seen in metabolic syndrome. This brand new edition of The Metabolic Syndrome will be an indispensable resource for all clinical researchers, physicians and scientists requiring detailed up-to-date information on the metabolic syndrome to further their own research or to treat and manage the syndrome and its complications. Specifically, the text will be of particular relevance to those involved and working in the fields of diabetes, endocrinology, obesity, cardiology, vascular disease and hepatology.

Endocrine and Metabolic Disorders Sourcebook, 4th. Ed.

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Author :
Publisher : Infobase Holdings, Inc
ISBN 13 : 0780817346
Total Pages : 528 pages
Book Rating : 4.7/5 (88 download)

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Book Synopsis Endocrine and Metabolic Disorders Sourcebook, 4th. Ed. by : James Chambers

Download or read book Endocrine and Metabolic Disorders Sourcebook, 4th. Ed. written by James Chambers and published by Infobase Holdings, Inc. This book was released on 2019-11-01 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides basic consumer health information about diagnosis and treatment of endocrine system and metabolic function disorders. Includes index, online access, glossary of related terms, and other resources.