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Item Details
Title: INHERITED METABOLIC DISEASES
A CLINICAL APPROACH
By: Georg F Hoffmann (Editor), Johannes Zschocke (Editor), William L. Nyhan (Editor)
Format: Mixed media product

List price: £191.76


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ISBN 10: 3662494086
ISBN 13: 9783662494080
Publisher: SPRINGER-VERLAG BERLIN AND HEIDELBERG GMBH & CO. KG
Pub. date: 30 July, 2016
Edition: 2nd ed. 2017
Pages: 605
Synopsis: 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.
Illustrations: 30 Tables, color; 34 Illustrations, color; 46 Illustrations, black and
Publication: Germany
Imprint: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
Returns: Returnable
Some other items by this author:
ATLAS OF INHERITED METABOLIC DISEASES
ATLAS OF INHERITED METABOLIC DISEASES
ATLAS OF INHERITED METABOLIC DISEASES 3E
ATLAS OF INHERITED METABOLIC DISEASES 3E
ATLAS OF METABOLIC DISEASES SECOND EDITION
BASISWISSEN HUMANGENETIK (PB)
CONGENITAL NEUROTRANSMITTER DISORDERS (HB)
DAS ERWEITERTE NEUGEBORENENSCREENING
HUMAN GENETICS (PB)
INHERITED METABOLIC DISEASES
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/1 (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/5 (PB)
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/6 (PB)
PADIATRIE
PEDIATRIC ENDOCRINOLOGY AND INBORN ERRORS OF METABOLISM (HB)
PEDIATRIC ENDOCRINOLOGY AND INBORN ERRORS OF METABOLISM (HB)
PHYSICIAN'S GUIDE TO THE TREATMENT AND FOLLOW-UP OF METABOLIC DISEASES
VADEMECUM METABOLICUM

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