VADEMECUM METABOLICUM

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Vademecum Metabolicum

Author : Johannes Zschocke
ISBN : 3794523857
Genre :
File Size : 22.28 MB
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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
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Inherited Metabolic Diseases

Author : Georg F. Hoffmann
ISBN : 9783662494103
Genre : Medical
File Size : 44.12 MB
Format : PDF
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This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.
Category: Medical

Vademecum Metabolicum

Author : Zschocke, Johannes
ISBN : 9783794532384
Genre :
File Size : 53.42 MB
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Accès immédiat à l’avis de l’expert ... Il arrive fréquemment qu’un médecin soit amené à prendre en charge un patient atteint d’une maladie héréditaire du métabolisme. Ceci peut être une situation délicate, particulièrement en cas d’urgence lorsque des investigations rapides et un traitement efficace sont cruciaux afin d’assurer un bon pronostic. C’est dans de telles situations qu’il est utile d’avoir sous la main le Vademecum Metabolicum. Ce livre concis ... explique les signes cliniques caractéristiques pour chaque groupe de maladies métaboliquesdécrit les principaux diagnostics différentielsrésume les principales caractéristiques de toutes les maladies métaboliques pour le clinicien Avec une telle approche unique, une accessibilité facile et une version dans 10 langues différentes, le Vademecum Metabolicum est le livre sur les maladies héréditaires du métabolisme qui a le plus de succès au monde! Il est très apprécié par les médecins de toutes spécialités (en particulier, pédiatres, généticiens, médecins généralistes, neurologues, biologistes) ainsi que les sages-femmes, les infirmières et les étudiants en médecine.
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Jimd Reports

Author : Johannes Zschocke
ISBN : 9783662448632
Genre : Medical
File Size : 82.90 MB
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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Category: Medical

Nutrition Management Of Inherited Metabolic Diseases

Author : Laurie E. Bernstein
ISBN : 9783319146218
Genre : Medical
File Size : 83.87 MB
Format : PDF, ePub
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This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
Category: Medical

Laboratory Guide To The Methods In Biochemical Genetics

Author : Beat Thöny
ISBN : 9783540766988
Genre : Medical
File Size : 39.72 MB
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This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Category: Medical

Pocket Pediatrics

Author : Paritosh Prasad
ISBN : 9781451153019
Genre : Medical
File Size : 85.97 MB
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Prepared by residents and attending physicians at Massachusetts General Hospital for Children, Pocket Pediatrics follows the style of Pocket Medicine, one of the best-selling references for medical students, interns, and residents. This pocket-sized looseleaf can be used on the wards and by candidates reviewing for pediatric board exams. In bulleted lists, tables, and algorithms, Pocket Pediatrics provides key clinical information about common pediatric problems in cardiology, pulmonology, gastroenterology, nephrology, hematology-oncology, infectious diseases, endocrinology, rheumatology, and neurology as well as on the well patient and the patient in the ICU. The six-ring binder resembles the familiar "pocket brain" notebook that most students and interns carry and allows users to add notes.
Category: Medical