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The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options.  ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Metabolism, Inborn errors of. --- Metabolism, Inborn Errors. --- Metabolism. --- Metabolism, Inborn errors of --- Metabolism --- Diagnosis --- Metabolism, Inborn Errors --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Metabolic Diseases --- Genetic Diseases, Inborn --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Nutritional and Metabolic Diseases --- Diseases --- Metabolic & Nutritional Diseases --- Pediatrics --- Medicine --- Health & Biological Sciences --- Disorders --- Genetic aspects --- Medicine. --- Clinical sciences --- Medical profession --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Human genetics. --- General practice (Medicine). --- Internal medicine. --- Neurology. --- Pathology. --- Pediatrics. --- Medicine & Public Health. --- Internal Medicine. --- General Practice / Family Medicine. --- Human Genetics. --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Genetic disorders --- Family medicine. --- Genetics --- Heredity, Human --- Physical anthropology --- Disease (Pathology) --- Medicine, Preventive --- Nervous system --- Neuropsychiatry --- Family practice (Medicine) --- General practice (Medicine) --- Physicians (General practice) --- Medicine, Internal --- Paediatrics --- Pediatric medicine --- Children --- Health and hygiene --- Neurology .

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The prognosis of a disease often depends on the timing of therapeutic invention, which in turn strongly relies on a reliable and quick diagnosis. Laboratory diagnostic pathways are algorithms that give structure to the diagnostic process, thereby minimizing the risk of mistreatment, shortening the hospital stay, and lowering the cost for treatment. This book offers 70 diagnostic algorithms that lead physicians and laboratory personnel through the diagnostic process in a step-by-step fashion. In Part One, general basics, infrastructure, and economic aspects are discussed and tipps for implementation are given. Part Two introduces screening methods for cases without a suspected diagnosis as well as specific pathways for stepwise diagnosis of the most common diseases, accompanied by information on pathophysiology, preanalytical measures, implementation, and interpretation of results.

Diagnosis, Laboratory. --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Diagnosis --- Pathology