Georg F. Hoffmann – författare

Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolismA 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 Medicine4 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'sIn 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 processAt-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 placeAll-inclusive coverage encompasses the full spectrum of critical topicsEmergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disordersChapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testingComplete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

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 applicabilityThe 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.

Es ermöglicht bei fast allen Kindern mit einer der in Deutschland erfassten Zielkrankheiten eine Diagnosestellung vor Krankheitsmanifestation, eine frühe Einleitung der Behandlung und eine normale körperliche und geistige Entwicklung.

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.

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. 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.

Bewährt als Standardwerk für Kinder- und Jugendärzte in Klinik und Praxis, präsentiert die 5. Auflage lückenlos das gesamte aktuelle Wissen der Pädiatrie in zwei Bänden.Der Erfahrungsschatz des erweiterten Herausgeberteams und der über 300 renommierten Autoren sorgt für exzellente didaktische und inhaltliche Qualität des Buches. In dem mehrbändigen Werk sind in über 350 Kapiteln alle organspezifischen Erkrankungen bis hin zu seltenen Krankheiten nach aktuellen Behandlungsleitlinien übersichtlich, prägnant und klar beschrieben. Eingängige Übersichten und instruktive Abbildungen machen das Werk anschaulich. Knappe Literaturangaben geben am Ende jedes Kapitels die wichtigsten Übersichtsarbeiten zu jedem der pädiatrischen Themen und Spezialgebiete an. Die letzte Sektion widmet sich der Arzneimitteltherapie bei Kindern und bietet unter anderem ein Kapitel zur pädiatrischen Labordiagnostik und eine Übersicht über die Interaktion von Arzneimitteln in der Kinder- und Jugendmedizin.