Pediatric Genetics And Inborn Errors Of Metabolism
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Inherited Metabolic Diseases
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Author : Georg F. Hoffmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-21
Inherited Metabolic Diseases written by Georg F. Hoffmann 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 2009-11-21 with Medical categories.
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.
Pediatric Genetics And Inborn Errors Of Metabolism
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Author : Christine M. Houser
language : en
Publisher:
Release Date : 2014-04-30
Pediatric Genetics And Inborn Errors Of Metabolism written by Christine M. Houser and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-04-30 with categories.
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).
Pediatric Endocrinology And Inborn Errors Of Metabolism
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Author : Kyriakie Sarafoglou
language : en
Publisher: McGraw Hill Professional
Release Date : 2012-09-01
Pediatric Endocrinology And Inborn Errors Of Metabolism written by Kyriakie Sarafoglou and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-01 with Medical categories.
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
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.
Pediatric Genetics An Issue Of Pediatric Clinics Of North America E Book
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Author : Anne Slavotinek
language : en
Publisher: Elsevier Health Sciences
Release Date : 2023-09-14
Pediatric Genetics An Issue Of Pediatric Clinics Of North America E Book written by Anne Slavotinek 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 2023-09-14 with Medical categories.
In this issue, guest editors bring their considerable expertise to this important topic.Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Essentials Of Neonatal Ventilation 1st Edition E Book
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Author : Rajiv PK
language : en
Publisher: Elsevier Health Sciences
Release Date : 2018-12-05
Essentials Of Neonatal Ventilation 1st Edition E Book written by Rajiv PK 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 2018-12-05 with Medical categories.
This book is an outstanding attempt to standardize bedside neonatal respiratory care by the most researched authentic experts in the world. This involves more than sixty authors from the United States, the United Kingdom, Canada, Australia, Spain, Italy, Germany, India, UAE, and China. The latest in the arena of neonatal ventilation which holds future promise has been incorporated in this book. The experts take you through a real-time progression of bedside ventilation practices, with the focus on pulmonary and neurological morbidity. The e-book has links to videos of critical chapters and lecture PPTs to give the intensivist a 360-degree understanding of the complexities of neonatal ventilation. - First comprehensive bedside management book of a baby on assisted ventilation. - Latest evidence-based practices on noninvasive ventilation with protocols. - A bedside guide for neonatologists, fellows, residents, postgraduates, medical students, nurse practitioners, and respiratory therapists. - Management of assisted ventilation including high-frequency ventilation and NAVA. - Analysis and algorithmic approach to cardiac hemodynamics in respiratory distress. - Protocolized approaches to critical respiratory diseases of the newborn. - Ancillary services explained in detail like targeted ECHO, NIRS, and Graphics by experts. - Videos and lecture presentations by experts on SLI, CPAP, SNIPPV, NAVA, ECHO, and Graphics.
Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer Science & Business Media
Release Date : 2003
Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases written by Nenad Blau 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 2003 with Medical categories.
Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
Genetic And Metabolic Disease In Pediatrics
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Author : June K. Lloyd
language : en
Publisher: Butterworth-Heinemann
Release Date : 2014-04-24
Genetic And Metabolic Disease In Pediatrics written by June K. Lloyd and has been published by Butterworth-Heinemann this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-04-24 with Medical categories.
Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants
Vademecum Metabolicum
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Author : Johannes Zschocke
language : en
Publisher: Schattauer Verlag
Release Date : 2004
Vademecum Metabolicum written by Johannes Zschocke and has been published by Schattauer Verlag this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Pediatrics categories.
Inborn errors of metabolism represent a special challenge in general and paediatric practice. The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic disorders in various biochemical pathways makes it difficult to be familiar with diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum aims to provide practical guidance to the clinician. The second edition has been extensively updated and expanded. The first section summarises the differential diagnosis and management strategies for a large number of clinical situations, and describes indications and requirements for all relevant metabolic investigations. The second section explains the metabolic pathways in detail. Clinical characteristics, diagnostic approaches and the basis of therapy are discussed for more than 300 individual disorders. Foreword by James V. Leonard, London