Abstract
The diagnosis of a neurometabolic disease is usually suggested by clinical history and physical findings and is confirmed by appropriate special studies which may include neuroradiological and neurophysiological investigations. On the other hand, routine neuroradiological and neurophysiological studies may incidentally produce results suggestive of a neurometabolic disorder. This overview contains a set of tables meant to be helpful in deciding which CT, MRI, and electrophysiological studies are indicated when certain neurometabolic disorders are suspected or which disorders must be considered after such studies have produced certain suggestive results.
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Invited review, Workshop on Selective Screening for Inborn Errors of Metabolism, Fulda, Germany, November 20–22, 1991
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Kohlschütter, A. Neuroradiological and neurophysiological indices for neurometabolic disorders. Eur J Pediatr 153 (Suppl 1), S90–S93 (1994). https://doi.org/10.1007/BF02138785
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DOI: https://doi.org/10.1007/BF02138785