Inherited Metabolic Diseases (Core Handbook Series in Pediatrics) - Softcover

Hoffmann, Georg F; Nyhan, William L.; Zschocke, Johannes; Kahler, Stephen G.; Mayatepek, Ertan

Softcover

ISBN 10: 0781729009 ISBN 13: 9780781729000

Publisher: Lippincott Williams and Wilkins, 2001

Synopsis

This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, and commonalities of therapy. Numerous tables and figures provide rapid access to individual items aiding in diagnostic and therapeutic decisions. This valuable resource is a useful tool for pediatricians, internists, neurologists, and clinical geneticists.

About this title

Review

From the reviews:

“The authors have written a reader friendly and instructive textbook which is divided into 5 parts. ... Highly illustrated with many tables. ... An updated, very useful text.” (Pediatric Endocrinology Reviews, Vol. 7 (3), March-April, 2010)

“This is the eighth edition of an intense but easy to read textbook of genetics with detailed explanations of the concepts and logic behind the science of genes and genomes. ... Designed for undergraduate students, this book provides a concise and logical base for individuals who may pursue careers in genetics. ... The authors are well recognized authorities in human genetics. ... Congratulations to the authors for this unique textbook. The art of teaching genetics is well served by their contribution.” (Luis F. Escobar, Doody’s Review Service, February, 2012)

From the Back Cover

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.

Edition details

• Publisher: Lippincott Williams and Wilkins
• Publication date: 2001
• Language: English
• ISBN 10: 0781729009
• ISBN 13: 9780781729000
• Binding: Paperback
• Number of pages: 448