Georg F. Hoffmann – författare

The acclaimed clinical guide to managing both pediatric endocrine disorders and inborn errors of metabolism

No other text so skillfully blends the disciplines of endocrinology and inborn metabolic disorders into one clinically focused, highly visual resource as Pediatric Endocrinology and Inborn Errors of Metabolism.

In this practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights clinicians need to confidently diagnose and manage pediatric patients. This full-color resource guides readers through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields.

· Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process

Editors

Kyriakie Sarafoglou, MD, is Director, Leo Fung Center for Congenital Adrenal Hyperplasia and Disorders of Sex Development, Division of Pediatric Endocrinology, Division of Genetics and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota.

Georg F. Hoffmann, MD, Univ.-Prof. Dr. med., Prof. h.c. mult. (RCH) is Professor and Chair, University Children''s Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Baden-Wurttemberg, Germany.

Karl S. Roth, MD is Professor and Chair (Retired), Department of Pediatrics, Creighton University School of Medicine, Omaha, Nebraska.

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:

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 applicability

The 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.

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 applicability

The 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.

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.

Bewährt als verlässliches Standardwerk für Kinder- und Jugendärzte in Klinik und Praxis, präsentiert die 4. Auflage lückenlos das gesamte aktuelle Wissen der Pädiatrie in grundlegender Überarbeitung.

Der Erfahrungsschatz des neuen Herausgeberteams und von über 300 renommierten Autoren sorgt für exzellente didaktische und inhaltliche Qualität des Werks. Übersichtlich, prägnant und klar dargestellt sind sämtliche allgemeinen Themen der Kinderheilkunde und alle erdenklichen Erkrankungen bis hin zu seltenen Krankheiten.

Band 1 präsentiert übergreifende Themen wie Prävention, Genetik, Ernährung, Immunologie, Infektionskrankheiten, Pränatale Medizin, Notfall- und Intensivmedizin und Pharmakotherapie.

In Band 2 sind alle organspezifischen Krankheiten systematisch dargestellt, von den blutbildenden Organen über die Atmungsorgane bis zu Erkrankungen der Nervensystems und der Haut. Zusätzlich ist die seelische Entwicklung mit ihren Störungen dargestellt.

Eingängige Übersichten und instruktive Abbildungen machen das Werk anschaulich, ergänzendes Bildmaterial ist online verfügbar. Knappe Literaturangaben geben die wichtigsten Übersichtsarbeiten zu jedem der pädiatrischen Themen und Spezialgebiete an. Plus: Ein umfangreicher Online-Anhang bietet u.a. eine Übersicht über die Interaktion von Arzneimitteln in der Kinder- und Jugendmedizin. 

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.

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.