Abstract
The spectrum of clinical presentations of metabolic disease is quite broad. Clues leading to an investigation by the clinician come from the history and physical examination, as well as from initial laboratory results. Acidosis, alkalosis, and hyperammonemia are alerting signals. Changes in the color of a diaper may be key.
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Nyhan, W.L. (2017). When to Suspect Metabolic Disease. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_4
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DOI: https://doi.org/10.1007/978-3-662-49410-3_4
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