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Inherited Metabolic Diseases + Ereference : A Clinical Approach (Hardcover)
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This book focuses on clinical presentations that may be caused by inheritedmetabolic diseases. Its symptom- and system-based approach will help clinicianswith and without detailed knowledge of human biochemistry in all specialties toreach a correct diagnosis and institute the optimal treatment program. The booksummarizes the central elements of inherited metabolic diseases and describesclearly how to carry out an efficient yet complete diagnostic work-up, therebyguiding the clinician from the presenting symptoms and signs through toeffective initial management. After an introduction to the different disorders,the book explains when to consider an inborn metabolic error and which initialtests to order. Core aspects such as structured communication, guidelines,transition, pregnancy, maternal care and how to respond to various medicalemergencies are covered. Therapeutic concepts such as dietary treatment aredelineated and practical advice provided on the quite different treatmentapproaches required for individual diseases. An extensive section structuredaccording to organ systems outlines the correct approach in the context ofspecific symptoms and signs. The value of each of the potential investigationsis explained, with precise advice on the interpretation of results. Theinclusion of algorithms, tables, lists, and charts facilitates rapid decisionmaking and information retrieval, and the appendices include a helpful guide todifferential diagnosis based on clinical and biochemical phenotypes. This newupdated edition of Inherited Metabolic Diseases will be an invaluable aid forthe busy clinician and an excellent quick reference for metabolic and geneticspecialists.