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This 2nd edition has been fully updated and gives an overview about the broad group of inborn errors of metabolism, thereby helping colleagues working in hospitals as well as in private practices. Beside newborn screening, the most important biochemical and clinical key symptoms and differential diagnoses are presented. In addition, the most frequent inborn errors of metabolism are illustrated in short and well arranged form. Special attention is given to tables, flow charts for differential diagnosis, special metabolic investigations as well as treatment and emergency management. In addition, original figures from illustrative clinical or radiological findings as well as hints to updated internet links are integrated.
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Inborn errors of metabolism - early detection, key symptoms and therapeutic options, Ertan Mayatepek
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- Année de publication
- 2017
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