Overview

The diagnosis of metabolic diseases is facilitated by this clinical book. Each chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. Illustrations highlight the metabolic derangement in a uniform way, thus affording clarification and better understanding of the treatment. The metabolic derangement is described in great detail, together with essential aspects of the genetics involved. The topics covered range from general aspects such as the clinical approach to metabolic diseases, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

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9783540585466

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