Abstract
Inborn errors of metabolism that belong to the same biochemical pathway often have similar clinical features, are detected by the same diagnostic procedures (basic and special diagnostic tests), and are treated according to similar principles of emergency intervention and long-term management. These clinical aspects are reflected in the SSIEM classification of inborn errors of metabolism which groups the large number of individual conditions according to their respective biochemical pathways or disease groups as well as common pathophysiological mechanisms. The SSIEM classification can be used for learning and understanding inborn errors of metabolism, provides a framework for textbooks and is expected to form the basis of the classification of inherited metabolic disorders in the forthcoming 11th edition of the international classification of diseases (ICD11).
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© 2014 Springer-Verlag Berlin Heidelberg
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Zschocke, J. (2014). SSIEM Classification of Inborn Errors of Metabolism. In: Blau, N., Duran, M., Gibson, K., Dionisi Vici, C. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40337-8_55
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DOI: https://doi.org/10.1007/978-3-642-40337-8_55
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