This clinical reference provides concise information on the treatment and management of inherited metabolic diseases. World experts cover all commonalities of therapy giving practical advice and guidance. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables and figures allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
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From the Contents:Initial approaches: Emergency Treatment of Metabolic Diseases.- Disorders: Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism.- Disorders Index.- Index.
