Abstract
Inborn errors of metabolism are individually rare but collectively numerous. As a whole, they cannot be recognized through systematic neonatal screening tests, which are too slow, too expensive or unreliable. This makes it an absolute necessity to use a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may, at times, be difficult for many reasons.
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Saudubray, J.M., de Baulny, H.O., Charpentier, C. (2000). Clinical Approach to Inherited Metabolic Diseases. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_1
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DOI: https://doi.org/10.1007/978-3-662-04285-4_1
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